Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability.

We studied a consanguineous family having three affected individuals with clinical features of severe intellectual disability and global developmental delay. Clinical diagnosis of the phenotype could not be established based on the features.

Therefore, whole genome SNP genotyping and whole exome sequencing (WES) were performed on DNA samples from affected and unaffected family members.Homozygosity mapping identified a shared loss of heterozygosity region on chromosome 8q22.1-q22.3 and WES data analysis revealed an insertion-deletion (indel) mutation (c.11519_11521delCAAinsT) in the VPS13B gene.

The indel is predicted to cause a frameshift resulting in a premature termination of the VPS13B protein (NP_060360.3:p.Pro3840Leufs*2).VPS13B encodes a giant transmembrane protein called vacuolar protein sorting 13 homolog B. VPS13B is known to play a role in the glycosylation of Golgi proteins and in endosomal-lysosomal trafficking. Moreover, it is thought to function in vesicle mediated transport and sorting of proteins within the cell.

Recombinant Human 4-1BB Receptor Protein

PROTQ07011-4 20ug
EUR 317
Description: 4-1BB Receptor, a member of the TNF superfamily of receptors, is mainly expressed on the surface of a variety of T cells, but also found in B cells, monocytes, and various transformed cell lines. 4-1BB Receptor binds to 4-1BBL to provide a co-stimulatory signal for T lymphocytes. Signaling by 4-1BB Receptor has been implicated in the antigen-presentation process and generation of cytotoxic T cells. The human 4-1BB Receptor gene codes for a 255 amino acid type I transmembrane protein containing a 17 amino acid N-terminal signal sequence, a 169 amino acid extracellular domain, a 27 amino acid transmembrane domain and a 42 amino acid cytoplasmic domain. Recombinant human soluble 4-1BB Receptor is a 167 amino acid polypeptide (17.7 kDa), which contains the cysteine rich TNFR-like extracellular domain of 4-1BB Receptor.

Recombinant Human PF-4 (CXCL4) Protein

PROTP02776-4 20ug
EUR 317
Description: PF-4 is a CXC chemokine that is expressed in megakaryocytes and stored in the α-granules of platelets. PF-4 is chemotactic towards neutrophils and monocytes and has been shown to inhibit angiogenesis. Recombinant human PF-4 is a 7.8 kDa protein containing 70 amino acid residues, including the four highly conserved residues present in CXC chemokines.

Mouse FibrOut 4, for brain, neural

4-20507 1 ml Ask for price

Mouse FibrOut 4, for brain, neural

4-20508 5 x 1 ml Ask for price

Rat FibrOut 4, for brain, neural

4-20533 1 ml Ask for price

Rat FibrOut 4, for brain, neural

4-20534 5 x 1 ml Ask for price

Human FibrOut 4, for brain, neural

4-21552 1 ml Ask for price

Human FibrOut 4, for brain, neural

4-21553 5 x 1 ml Ask for price

DIGITAL SHAKER FOR 4 MICROPLATES, 120V

6780-4 1/pk
EUR 798
Description: Lab Equipment; Shakers & Mixers

Bone Dissociation System 4 (Osteoblasts), Adult Mouse

4-20214 ea Ask for price

Liver Dissociation System 4 (Hepatocytes, rat), Rat

4-20304 ea Ask for price

Pituitary Dissociation System 4 (Pituitary), Adult mouse

4-20404 ea Ask for price

Thymus Dissociation System 4 (Epithelial), Adult rat

4-20444 ea Ask for price

Cartilage Dissociation System 4 (Chondrocytes), Mouse and Rat

4-20234 ea Ask for price

Mammary Dissociation System 4 (Epithelial, Swiss 3T3), Mouse

4-20324 ea Ask for price

Pancreas Dissociation System 4 (Islets), Mouse and Rat

4-20374 ea Ask for price

Skin Dissociation System 4 (Keratinocytes), Mouse and Rat

4-20434 ea Ask for price

DIGITAL SHAKER FOR 4 MICROPLATES, 230V-EU PLUG

6781-4 1/pk
EUR 798
Description: Lab Equipment; Shakers & Mixers

DIGITAL SHAKER FOR 4 MICROPLATES, 230V-UK PLUG

6782-4 1/pk
EUR 798
Description: Lab Equipment; Shakers & Mixers

Adipose/Fat Dissociation System 4 (Predipocytes), Mouse and Rat

4-20194 ea Ask for price

Brain Dissociation System 4 (Endothelial, Microvessels), Mouse and Rat

4-20224 ea Ask for price

Endothelial Dissociation System 4 (Endothelial,Cerebral), Mouse and Rat

4-20244 ea Ask for price

Heart Dissociation System 4 (Myocytes,Ventricles), Mouse and Rat

4-20274 ea Ask for price

Muscle Dissociation System 4 (Smooth muscle), Mouse and Rat

4-20334 ea Ask for price

Parotid Dissociation System 4 (Parotid acinar), Mouse and Rat

4-20394 ea Ask for price

Epithelial Dissociation System 4 (Epithelial,Submandibular salivary), Mouse and Rat

4-20254 ea Ask for price

Heart Dissociation System 4 (Retinal pigment epithelial), Mouse and Rat

4-20294 ea Ask for price

Lung Dissociation System 4 (Alveolar type II), Mouse and Rat

4-20314 ea Ask for price

Reproductive Tissue Dissociation System 4 (Epithelial, vagina), Mouse and Rat

4-20414 ea Ask for price

ExoStd? Lyophilized Exosome Standard (30 µg, Human Plasma, 4 vials)

M1040-4
EUR 909

ExoStd? Lyophilized Exosome Standard (100 µg, Human Plasma, 4 vials)

M1041-4
EUR 1137

ExoStd? Lyophilized Exosome Standard (30 µg, Human Serum, 4 vials)

M1042-4
EUR 909

ExoStd? Lyophilized Exosome Standard (100 µg, Human Serum, 4 vials)

M1043-4
EUR 1132

ExoStd? Lyophilized Exosome Standard (30 µg, Human Urine, 4 vials)

M1044-4
EUR 909

ExoStd? Lyophilized Exosome Standard (100 µg, Human Urine, 4 vials)

M1045-4
EUR 1137

ExoStd? Lyophilized Exosome Standard (30 µg, Human Saliva, 4 vials)

M1046-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, Human Saliva, 4 vials)

M1047-4
EUR 1137

ExoStd? Lyophilized Exosome Standard (30 µg, U87 MG, 4 vials)

M1054-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, U87 MG, 4 vials)

M1055-4
EUR 1142

Adrenal Dissociation System 4 (Heart, Adrenal chromaffin, Paraneurons), Mouse and Rat

4-20204 ea Ask for price

Kidney Dissociation System 4 (Inner medullary duct,Papillae), Mouse and Rat

4-29294 ea Ask for price

ExoStd? Lyophilized Exosome Standard (30 µg, COLO1 cell line, 4 vials)

M1048-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, COLO1 cell line, 4 vials)

M1049-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, MM1 cell line, 4 vials)

M1050-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, MM1 cell line, 4 vials)

M1051-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, BLCL21 cell line, 4 vials)

M1052-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, BLCL21 cell line, 4 vials)

M1053-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, HCT116 cell line, 4 vials)

M1058-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, HCT116 cell line, 4 vials)

M1059-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, PC3 cell line, 4 vials)

M1060-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, PC3 cell line, 4 vials)

M1061-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, DAUD1 cell line, 4 vials)

M1064-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, DAUD1 cell line, 4 vials)

M1065-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, A549 cell line, 4 vials)

M1066-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, A549 cell line, 4 vials)

M1067-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, B16F10 cell line, 4 vials)

M1070-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, B16F10 cell line, 4 vials)

M1071-4
EUR 1142

Tumor Dissociation System 4 (Epithelial tumor,Neoplastic, Tumor, islet), Mouse and Rat

4-20484 ea Ask for price

ExoStd? Lyophilized Exosome Standard (30 µg, BPH-1 cell line, 4 vials)

M1062-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, BPH-1 cell line, 4 vials)

M1063-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, K-562 cell line, 4 vials)

M1068-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, K-562 cell line, 4 vials)

M1069-4
EUR 1142

ExoStd? Lyophilized Exosome Standard (30 µg, SK-N-SH cell line, 4 vials)

M1056-4
EUR 914

ExoStd? Lyophilized Exosome Standard (100 µg, SK-N-SH cell line, 4 vials)

M1057-4
EUR 1142

Neural Dissociation System 4 (Cerebella neurons Dorsa horn neurons Neurons, sympathetic Precursor Spinal), Mouse and Rat

4-20354 ea Ask for price

Human Carbohydrate Antigen 72-4 (CA72-4) ELISA Kit

RD-CA72-4-Hu-48Tests 48 Tests
EUR 478

Human Carbohydrate Antigen 72-4 (CA72-4) ELISA Kit

RD-CA72-4-Hu-96Tests 96 Tests
EUR 662

Human Carbohydrate Antigen 72-4 (CA72-4) ELISA Kit

DLR-CA72-4-Hu-48T 48T
EUR 479
Description: A sandwich quantitative ELISA assay kit for detection of Human Carbohydrate Antigen 72-4 (CA72-4) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.

Human Carbohydrate Antigen 72-4 (CA72-4) ELISA Kit

DLR-CA72-4-Hu-96T 96T
EUR 621
Description: A sandwich quantitative ELISA assay kit for detection of Human Carbohydrate Antigen 72-4 (CA72-4) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.

Human Carbohydrate Antigen 72-4 (CA72-4) ELISA Kit

RDR-CA72-4-Hu-48Tests 48 Tests
EUR 500

Human Carbohydrate Antigen 72-4 (CA72-4) ELISA Kit

RDR-CA72-4-Hu-96Tests 96 Tests
EUR 692

PRL (Prolactin) ELISA test

4 96T/Box Ask for price
Description: ELISA based test for quantitative detection of PRL (Prolactin)

SPA-Cys Staphylococcal Protein-A Cys Recombinant Protein

PROTP38507-4 Regular: 100mg
EUR 418
Description: SPA-Cys Recombinant produced in E.Coli is a single non-glycosylated polypeptide chain with a Cys on C-terminus. SPA-Cys is comprised of 5 IgG-binding domains E-D-A-B-C aligned in series containing 297 amino acids and having a molecular mass of 33.5kDa containing little or no carbohydrate. Cell wall binding region, cell membrane binding region and albumin binding region were removed to ensure the highest specific IgG binding.

Recombinant Murine SDF-1 Beta (CXCL12) Protein

PROTP40224-4 10ug
EUR 317
Description: SDF-1α and β are stromal derived CXC chemokines, and signal through the CXCR4 receptor. SDF-1α and β chemoattract B and T cells, and have been shown to induce migration of CD34+ stem cells. Additionally, the SDF-1 proteins exert HIV suppressive activity in cells expressing the CXCR4 receptor. Recombinant murine SDF-1β is a 8.5 kDa protein containing 72 amino acid residues.

SDF-1b Stromal Cell Derived Factor-1 Beta Human Recombinant Protein (CXCL12)

PROTP48061-4 Regular: 10ug
EUR 317
Description: Stromal Cell-Derived Factor-1 beta Human Recombinant produced in E.Coli is a non-glycosylated, Polypeptide chain containing 72 amino acids and having a molecular mass of 8508 Dalton. ;The SDF-1b is purified by proprietary chromatographic techniques.

Recombinant Human Sox2-TAT Protein

PROTP48431-4 25ug
EUR 317
Description: Sox2, also known as sex determining region Y (SRY)-box 2, belongs to a diverse family of structurally-related transcription factors whose primary structure contains a 79-residue DNA-binding domain, called high mobility group (HMG) box. It plays an essential role in maintaining the pluripotency of embryonic stem cells (ESC) and determination of cell fate. Microarray analysis showed that Sox2 regulates the expression of multiple genes involved in embryonic development including FGF-4, YES1 and ZFP206. Sox2 acts as a transcriptional activator after forming a ternary complex with Oct3/4 and a conserved non-coding DNA sequence (CNS1) located approximately 2 kb upstream of the RAX promoter. The introduction of Sox2, Oct4, Myc, and Klf4, into human dermal fibroblasts isolated from a skin biopsy of a healthy research fellow was sufficient to confer a pluripotent state upon the fibroblast genome. The reprogrammed cells thus obtained resemble ESC in morphology, gene expression, and in the capacity to form teratomas in immune-deficient mice. Sox2 and other transcription factors have been introduced into cells by DNA transfection, viral infection, or microinjection. Protein transduction using TAT fusion proteins represents an alternative methodology for introducing transcription factors and other nuclear proteins into primary as well as transformed cells. Recombinant human Sox2-TAT expressed in E. coli is a 36 kDa protein containing 330 amino-acid residues, including the 317 residues of full-length Sox2 and a 13-residue C-terminal TAT peptide (GGYGRKKRRQRRR).

PLGF3 Placenta Growth Factor-3 Human Recombinant Protein

PROTP49763-4 Regular: 25ug
EUR 317
Description: PLGF3 Human Recombinant produced in E.Coli is a non-glycosylated homodimer containing 2x204 amino acids and having a total molecular mass of 45.8kDa.

Flt3 Ligand Porcine Recombinant Protein

PROTP49771-4 Regular: 25ug
EUR 317
Description: Flt3-Ligand Porcine Recombinant produced in E.Coli is a non-glycosylated, polypeptide chain containing 155 amino acids and having a molecular mass of approximately 17.3kDa.   Flt3-Ligand is purified by proprietary chromatographic techniques.

Recombinant Human IL-2 Protein

PROTP60568-4 50ug
EUR 317
Description: IL-2 is a powerful immunoregulatory lymphokine produced by T-cells in response to antigenic or mitogenic stimulation. IL-2/IL-2R signaling is required for T-cell proliferation and other fundamental functions which are essential for the immune response. IL-2 stimulates growth and differentiation of B-cells, NK cells, lymphokine activated killer cells, monocytes, macrophages and oligodendrocytes. Recombinant human IL-2 is a 15.5 kDa protein, containing 134 amino acid residues including one intrachain disulfide bond.

RPS27A Human, Ubiquitin Human Recombinant Protein, GST Tag

PROTP62988-4 Regular: 5ug
EUR 479
Description: Ubiquitin Human Recombinant GST Tag full length protein is produced in E.Coli, having a molecular weight of 35kDa (determined by SDS gel electrophoresis).

Recombinant Murine VEGF Protein

PROTQ00731-4 10ug
EUR 317
Description: VEGF is a potent growth and angiogenic cytokine. It stimulates proliferation and survival of endothelial cells, and promotes angiogenesis and vascular permeability. Expressed in vascularized tissues, VEGF plays a prominent role in normal and pathological angiogenesis. Substantial evidence implicates VEGF in the induction of tumor metastasis and intra-ocular neovascular syndromes. VEGF signals through the three receptors; fms-like tyrosine kinase (flt-1), KDR gene product (the murine homolog of KDR is the flk-1 gene product) and the flt4 gene product. Recombinant murine VEGF is a 39.0 kDa disulfide-linked homodimeric protein consisting of two 165 amino acid polypeptide chains.

Recombinant Human IL-16 (129 a.a.) Protein

PROTQ14005-4 10ug
EUR 317
Description: IL-16 is a CD8+ T cell-derived cytokine that induces chemotaxis of CD4+ T cells and CD4+ monocytes and eosinophils. Analysis by gel filtration suggests that, under physiological conditions, hIL-16 exists predominantly as a noncovalently linked multimer, but that some IL-16 may exist as a monomer. However, only the multimeric form appears to possess chemotactic activity, suggesting that receptor cross-linking may be required for activity. IL-16 also induces expression of IL-2 receptor (IL-2R) and MHC class II molecules on CD4 + T cells. Human and murine IL-16 show significant cross-species reactivity. Recombinant human IL-16 is a 13.5 kDa protein consisting of 130 amino acid residues.

Acrp30 Adiponectin Human Recombinant Protein

PROTQ15848-4 Regular: 25ug
EUR 317
Description: The Adiponectin Human recombinant protein is a single, non-glycosilated polypeptide chain produced in E. coli, having a molecular weight of 25.1 kDa and containing 231 amino acids (15-244).

Recombinant Human IL-17 (IL-17A) Protein

PROTQ16552-4 25ug
EUR 317
Description: The originally described IL-17 protein, now known as IL-17A, is a homodimer of two 136 amino acid chains, secreted by activated T-cells that act on stromal cells to induce production of proinflammatory and hematopoietic bioactive molecules.  Today, IL-17 represents a family of structurally-related cytokines that share a highly conserved C-terminal region but differ from one another in their N-terminal regions and in their distinct biological roles.  The six known members of this family, IL-17A through IL-17F, are secreted as homodimers.  IL-17A exhibits cross-species bioactivity between human and murine cells.  Recombinant human IL-17A is a 31.3 kDa disulfide-linked homodimer of two 137 amino acid polypeptide chains.

Recombinant Human HCC-1 (CCL14) (72 a.a.) Protein

PROTQ16627-4 10ug
EUR 317
Description: HCC-1 is a CC chemokine that signals through the CCR1 receptor and chemoattracts blood monocytes. It is secreted by various tissues including skeletal muscle, heart, spleen, liver and bone marrow. Recombinant human HCC-1 is an 8.4 kDa protein consisting of 72 amino acids including the four highly conserved residues present in CC chemokines.

Recombinant Murine Adiponectin Protein

PROTQ60994-4 25ug
EUR 317
Description: Adiponectin is an adipose-derived secreted protein containing 236 amino acid residues.  It is relatively abundant in humans and rodents, accounting for about 0.01% of total plasma protein.  The circulating levels of adiponectin are decreased under conditions of obesity, insulin resistance, and type II diabetes.  Disruption of adiponectin in mice causes insulin resistance and neointimal formation.  Conversely, administration of recombinant adiponectin suppresses hepatic glucose production, and reverses insulin resistance associated with both lipoatrophy and obesity.  The protective role of adiponectin is attributed to its anti-inflammatory properties (e.g. ability to suppress expression of TNF-β and class A scavenger receptor in macrophages). Recombinant adiponectin is a multimeric glycoprotein containing amino acids Val-21 to Asn-247 of the adiponectin precursor protein fused to an N-terminal histidine tag.  Monomeric glycosylated adiponectin migrates at an apparent molecular weight of approximately 35.0 kDa by SDS PAGE analysis under reducing conditions.

Recombinant Human IFN-Lambda 1 Protein

PROTQ8IU54-4 20ug
EUR 317
Description: IFN λ-1,-2, and -3 (also known as IL-29, IL-28A and IL-28B respectively) are distantly related to the IL-10 family and Interferons. All three IFN-λs use a distinct receptor system composed of an IFN-λR1 subunit (also called CRF2-12) and IL-10R2 subunit (also called CRF2-14). Signaling through this receptor system induces antiviral defense similar but distinct than the type I Interferons. (Kotenko, SV. et al. Nat Immunology 2003 [1] p. 69-77). Recombinant human IFN-λ 1 is a 19.8 kDa protein containing 178 amino acid residues.

Recombinant Human IL-17F Protein

PROTQ96PD4-4 25ug
EUR 317
Description: IL-17F, a member of the IL-17 family of structurally related cytokines, has been shown to stimulate proliferation and activation of T-cells and PBMCs. IL-17F also regulates cartilage matrix turnover and inhibits angiogenesis. Recombinant human IL-17F is a disulfide-linked homodimer of 30.1 kDa, consisting of two 133 amino acid residue chains.

Recombinant Human Nanog-TAT Protein

PROTQ9H9S0-4 20ug
EUR 317
Description: Nanog is a regulatory protein that is associated with undifferentiated pluripotent cells. The expression of Nanog, which is suppressed in all adult tissues, is restricted to embryonic stem cells and to certain pluripotent cancer cells. Decreased expression of Nanog is strongly correlated with cell differentiation. Nanog, most likely, acts as an intracellular regulator, which helps maintain pluripotency and self renewal via a STAT3 independent pathway. The introduction of Nanog, along with Sox2, Oct4, Lin28, into primary human fibroblasts was sufficient to confer a pluripotent state upon the fibroblast genome. The reprogrammed cells thus obtained resemble ESC in morphology and gene expression. Protein transduction using TAT fusion proteins represents an alternative methodology for introducing transcription factors into primary as well as transformed cells. Recombinant human Nanog-TAT is a 36.2 kDa protein, which is synthesized as a 304 amino acid polypeptide plus a 13- residue C-terminal TAT peptide.

Recombinant Human Resistin Protein

PROTQ9HD89-4 25ug
EUR 317
Description: Resistin belongs to a family of tissue-specific cytokines termed FIZZ (found in inflammatory zones) and RELM. The three known members of this family; Resistin, RELM-α and RELM-β share a highly conserved C-terminal domain, characterized by 10 cysteine residues with a unique spacing motif of C-X11-C-X8-C-X-C-X3-C-X10-C-X-C-X-C-X9-C-C. Resistin is an adipose-derived cytokine (adipokine) whose physiological function and molecular targets are largely unknown. Studies have shown that Resistin suppresses insulin's ability to stimulate glucose uptake, and postulated that Resistin might be an important link between obesity and Type 2 diabetes. Other studies have indicated that Resistin expression is severely suppressed in obesity and that it may act as a feedback regulator of Adipogenesis. Recombinant human Resistin is a 19.5 kDa disulfide-linked homodimeric protein composed of two identical 92 amino acid chains linked by a single disulfide bond.

Recombinant Human TIGAR-TAT Protein

PROTQ9NQ88-4 25ug
EUR 317
Description: TIGAR is a p53-inducible enzyme that catalyzes the hydrolysis of fructose-2-6 bisphosphate (F-2-6-BP) to fructose-6-phosphate and inorganic phosphate. F-2-6-BP is a powerful activator of 6-phosphofructose-1 kinase, the rate limiting enzyme of glycolysis. By lowering the intracellular level of F-2-6-BP, TIGAR expression leads to increased glucose processing via the pentose phosphate pathway, the major cellular source for NADPH. Protein transduction using TAT fusion proteins represents an alternative methodology for introducing transcription factors and other intracellular proteins into primary as well as transformed cells. Recombinant human TIGAR-TAT expressed in E. coli is a 31.6 kDa protein containing 283 amino-acid residues, including the 269 residues of full-length TIGAR fused to a 14-residue C-terminal peptide containing the TAT transduction domain (GGGYGRKKRRQRRR).

Recombinant Human ANGPTL-3 Protein

PROTQ9Y5C1-4 50ug
EUR 317
Description: ANGPTL-3 (Angiopoietin like protein 3) is a member of the angiopoietin family of structurally related proteins, characterized by a coiled N-terminal domain and a C-terminal fibrinogen like domain. It is primarily expressed in the liver and can exert activities related to both angiogenesis and lipid metabolism. ANGPTL-3 inhibits lipoprotein lipase (LPL) and endothelial lipase (EL), which has the effect of increasing plasma levels of triglycerides and HDL associated cholesterol. The fibrinogen like portion of the ANGPTL-3 protein can bind alpha-5/beta-3 integrins leading to endothelial cell adhesion and migration.  Recombinant human ANGPTL-3 is a glycoprotein that migrates by SDS-PAGE analysis at an apparent molecular weight of 62 kDa, and contains 452 amino acid residues including a C-terminal His tag.

Human fibrinogen Mab

QZBFBY18-4 500 ug IgM
EUR 759

Jurkat T / GFP Stable Cell (CD68 Promoter)

SC049-4 2 x 106 cell/ml x 1ml
EUR 1500
Description: GFP expression stable cell line in human Jurkat T Cells with Puromycin resistance. GFP is expressed under the promoter of human CD68 gene.

Anti-Fibrillarin Antibody

M03178-4 100ul
EUR 397
Description: Rabbit Polyclonal Fibrillarin Antibody. Validated in IP, IHC, WB and tested in Human, Mouse, Rat.

Anti-Calretinin Antibody

M04255-4 100ul
EUR 397
Description: Chicken Polyclonal Calretinin Antibody. Validated in IF, IHC, WB and tested in Bovine, Equine, Human, Mouse, Pig, Rat.

The mechanism by which abnormalities of the VPS13B protein lead to the phenotype of CS is currently unknown. Here, in this study, we successfully established a clinical diagnosis of CS cases from a family using genomic analyses. Clinical re-examination of the patients revealed characteristic ocular abnormalities.