{"product_id":"b-lcl-cdg5-cell-bhc11101676","title":"B-LCL-CDG5 cell","description":"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.  \n\nAs 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.\n\u003cp style=\"display:none\"\u003eSKU:BHC11101676\u003c\/p\u003e","brand":"Cytion","offers":[{"title":"1 cryovial","offer_id":52950198485357,"sku":"302016","price":800.0,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0949\/7424\/7277\/files\/B-LCL-CDG5_20P4_2010x_2001_2003052022_1920x1920_2597d0f0-b086-4038-a8a0-7ed6f45f3e0e.jpg?v=1769068960","url":"https:\/\/www.ebiohippo.com\/products\/b-lcl-cdg5-cell-bhc11101676","provider":"BioHippo","version":"1.0","type":"link"}