B-LCL-CDG2 Cells

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.