B-LCL-CDG5 Cells

B-LCL-CDG5 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. This disorder impairs the proper synthesis and attachment of glycan structures to glycoproteins and glycolipids, affecting multiple organ systems. The deficiency in phosphomannomutase 2 (PMM2) disrupts the conversion of mannose-6-phosphate to mannose-1-phosphate, a critical step in glycosylation, leading to defects in cellular function and systemic complications.

As an EBV-immortalized B cell line, B-LCL-CDG5 serves as a crucial model for studying the biochemical and molecular effects of *PMM2* mutations. This cell line enables researchers to investigate glycosylation defects, PMM2 enzymatic activity, and the cellular consequences of impaired glycosylation. Additionally, it provides a platform for testing potential therapeutic approaches, such as pharmacological chaperones, enzyme enhancement therapies, or substrate supplementation strategies. B-LCL-CDG5, in combination with other CDG patient-derived cell lines, aids in advancing our understanding of PMM2-CDG and the development of targeted treatment options.