B-LCL-CDG5 Cells - Human cells | Rare diseases - cell lines
Produktgrößen
1 each
£1065,00
302016-1EACH
Über dieses Produkt
- SKU:
- 302016
- Anwendung:
- Apoptosis, Cell-based/Functional Assay
- Weitere Details:
- 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.
- Versandbedingungen:
- Dry Ice
- Lagerbedingungen:
- Liquid N2, -70[o]C Avoid freeze/thaw cycles.
- Hersteller:
- Cytion
- Typ:
- Cells: Cell Lines
- Datenblatt des Herstellers:019560bed9137dd49785043246a6c241