Author

S. Mukherjee

2 papers indexed here

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Open access Sep 2026

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

Two patient-derived induced pluripotent stem cell lines generated from clinically diagnosed HHT donors carrying heterozygous ACVRL1 mutations show expected iPSC morphology, robust expression of markers of the undifferentiated iPSC state, genomic stability by LP-WGS, and tri-lineage differentiation capacity.

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, D. Cabrera, Xiaochun Yang et al. · Stem Cell Research · 0 citations