B-LCL-CDG3 Cells - Human cells | Rare diseases - cell lines
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1 each
£1065,00
302014-1EACH
Über dieses Produkt
- SKU:
- 302014
- Anwendung:
- Apoptosis, Cell-based/Functional Assay
- Weitere Details:
- 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.
- Versandbedingungen:
- Dry Ice
- Lagerbedingungen:
- Liquid N2, -70[o]C Avoid freeze/thaw cycles.
- Hersteller:
- Cytion
- Typ:
- Cells: Cell Lines
- Datenblatt des Herstellers:019560b9048b744d982c55e7b4af291c