{"product_id":"b-lcl-cdg3-cell-bhc11101675","title":"B-LCL-CDG3 cell","description":"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.  \n\nAs 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.\n\u003cp style=\"display:none\"\u003eSKU:BHC11101675\u003c\/p\u003e","brand":"Cytion","offers":[{"title":"1 cryovial","offer_id":52950198419821,"sku":"302014","price":800.0,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0949\/7424\/7277\/files\/B-LCL-CDG3_20P6_2020x_2001_2016052022_1920x1920_9ccf3147-3a13-4b3f-a794-0fa2009d7549.jpg?v=1769068959","url":"https:\/\/www.ebiohippo.com\/products\/b-lcl-cdg3-cell-bhc11101675","provider":"BioHippo","version":"1.0","type":"link"}