概要：B-LCL-CDG2 is an EBV-transformed B lymphocyte cell line derived from a young girl suffering from PMM2-CDG.
PMM2-CDG is a rare inborn error of metabolism, which results in defective synthesis of glycosylated oligosaccharide chains of many tissue and blood glycoproteins and/or glycosphingolipids.
The primary cause of defective glycosylation is based on mutations in the enzyme phosphomannomutase 2 (PMM2).
There are two distinct mutations for the PMM2 gene.
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：Female
Ethnicity：Caucasian
Morphology：Round cells
Cell Type：B lymphocyte
Growth Properties：Suspension, Cluster
Citation：B-LCL-CDG2 (Cytion catalog number 302013)
