概要：B-LCL-CDG7 is an EBV-transformed B lymphocyte cell line derived from a young boy 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 Beta-mannosidase II or Nacetylglucosaminyltransferase II.
仕様
容量：1vial
カテゴリー： Rare diseases - cell lines
Organism：Human
Tissue：Peripheral blood
Disease：Congenital Disorders of Glycosylation
Applications：Genotyping of CDG effects in immune cells, functional testing (e.g. B cell surface antigens), testing of cytotoxic drugs, mutational analysis, analysis of apoptotic mechanisms, HLA-typing, impact of defective glycosylation of distinct cellular glycoproteins on diverse functions.
Age：Child
Gender：Male
Ethnicity：Caucasian
Morphology：Round cells
Cell Type：B lymphocyte
Growth Properties：Suspension, Cluster
Citation：B-LCL-CDG7 (Cytion catalog number 302018)
Biosafety Level：2
Surface Antigens：CD15 (Lewis x)(+), CD15s (sialylated Lewis x)-, CD75s (sialylated lactosaminyl Noligosccharides)+, CD173 (blood group H)-, CD174 (blood group Lewis y)-, CD175 (Tn)-, CD175s (sialylated Tn)-, CD176 (TF)+
Antigen Expression：CD19+, CD20+, CD37+, CD43+, CD44+, CD45+, CD45R0-MHC Class.I+, MHC Class II (HLA-DR)+
