B-LCL-CDG1 Cells

B-LCL-CDG1 is an EBV-transformed B lymphocyte cell line derived from a patient diagnosed with PMM2-CDG, a congenital disorder of glycosylation (CDG). This rare metabolic disorder arises from mutations in the *PMM2* gene, which encodes phosphomannomutase 2 (PMM2), an essential enzyme in the glycosylation pathway. Mutations in *PMM2* disrupt the synthesis of glycosylated oligosaccharide chains, leading to defective glycosylation of various glycoproteins and glycosphingolipids in tissues and blood. The disorder is characterized by multisystemic manifestations, often affecting neurological, hepatic, and endocrine functions. As an EBV-transformed lymphoblastoid cell line, B-LCL-CDG1 provides a valuable in vitro model for studying the molecular and cellular consequences of *PMM2* deficiency. This cell line can be used to investigate glycosylation defects, PMM2 enzyme activity, and potential therapeutic interventions, including gene correction and substrate supplementation. B-LCL-CDG1, alongside other CDG patient-derived cell lines, serves as a crucial resource for understanding the pathophysiology of CDGs and evaluating novel treatment strategies for these disorders.