B-LCL-CDG4 Cells - Rare diseases - cell lines
Product Sizes
1 each
£1065.00
302015-1EACH
About this Product
- SKU:
- 302015
- Application:
- Apoptosis, Cell-based/Functional Assay
- CE/IVD:
- Our cells are provided for in vitro laboratory research purposes exclusively and are not intended fo
- Extra Details:
- B-LCL-CDG4 is an EBV-transformed B lymphocyte cell line derived from a young girl with CDAII. CDAII is a rare genetic anaemia, affiliated to the class of CDG glycosylation disorders. CDAII patients have a defect in the COPII component SEC23B gene which is involved in the intracellular protein transport system (in particular vesicular budding from ER). The respective patient is homozygous for the mutation in this gene. Band 3 glycoprotein of erythrocyte membranes is under glycosylated by aberrant glycosylation of polylactosamine motifs of glycoproteins but not of glycosphingolipids, thus band 3 of CDA II erythrocytes have truncated hybrid-type oligosaccharides. This points to an additional defect in the Golgi glycosylation enzymes mannosidase II or Nacetylglucosaminyltransferase II.
- Shipping Conditions:
- Dry Ice
- Storage Conditions:
- Liquid N2, -70[o]C Avoid freeze/thaw cycles.
- Supplier:
- Cytion
- Type:
- Cells: Cell Lines
- Manufacturer's Data Sheet:ff6416799b23483abd8a1ad230f2dc77
