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Updated: Aug 28, 2026

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Published on: January 28, 2015
Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations
Debarun Patra1, David G T Cabrera1, Xiaochun Yang1
1Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Abstract:
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 generated and characterized induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two female patients carrying a heterozygous GLA mutation. The two Fabry disease patient-derived iPSC lines are thoroughly characterized and genetically accurate, valuable human cell resources for preclinical research.
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