B-LCL-CDG3 Cells

B-LCL-CDG3 is an EBV-transformed B lymphocyte cell line derived from a patient with PMM2-CDG, a congenital disorder of glycosylation (CDG) caused by mutations in the *PMM2* gene. PMM2 encodes phosphomannomutase 2, a key enzyme in the N-glycosylation pathway, responsible for converting mannose-6-phosphate to mannose-1-phosphate. Deficiencies in PMM2 result in impaired glycosylation of multiple glycoproteins and glycolipids, leading to a broad spectrum of clinical manifestations, including neurological, hepatic, and endocrine dysfunction. As an EBV-immortalized B cell line, B-LCL-CDG3 serves as a valuable in vitro model for studying the molecular effects of *PMM2* mutations. This cell line can be used to analyze glycosylation defects, investigate PMM2 enzyme activity, and test potential therapeutic strategies, such as enzyme enhancement therapies or substrate supplementation. B-LCL-CDG3, along with other CDG patient-derived cell models, contributes to advancing research on CDG pathophysiology and treatment development.