Author

S. Mukherjee

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Open access Sep 2026

Generation of two induced pluripotent stem cell lines from hereditary hemorrhagic telangiectasia patients harboring ACVRL1 mutations.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder in which dysregulated endothelial signaling drives telangiectasias and arteriovenous malformations across multiple organs. Loss-of-function variants in ACVRL1 (ALK1), a core receptor in BMP9/10 signaling, are a major genetic cause. H...

Mey-Sam Chörsi, Haley M. Fernandez, Ren-Ke Tan et al. · Stem Cell Research · 0 citations

Open access Aug 2026

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations

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 p...

Debarun Patra, David G. T. Cabrera, Xiaochun Yang et al. · Stem Cell Research · 0 citations