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Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development

Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known...

Published: 7/25/2024 | Inventor(s): Lynne Wolfe, Carlos Ferreira Lopez, William Gahl

Keywords(s): Cell, Congenital, DISORDER, Fibroblast, Glycosylatlon, Human, Lines, PMM2, VEXXXX, VPXXXX, WIXXXX, WKXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Neurology, TherapeuticArea > Infectious Disease, TherapeuticArea > Cardiology, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Dental, Application > Research Materials