Article
Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations.
Stem cell research - 1 Sept 2026
Patra Debarun, Cabrera David G T, Yang Xiaochun, Walther Parker, Mukherjee Souhrid, Sampson Jacinda, Wu Joseph C
Abstract excerpt
Fabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylceramide buildup throughout the major organs, which is associated with increased mortality from cardiac disease in patients with Fabry disease. Both females and males are affected by this X-linked disease. We...
Read the complete abstract on PubMedTopics
- Humans
- Fabry Disease
- Induced Pluripotent Stem Cells
- Female
- alpha-Galactosidase
- Mutation