Generation of diseased and isogenic control human induced pluripotent stem cell lines MHHi043-A & MHHi043-B from a female Fabry disease patient carrying c.644A > G missense mutation.

Abstract

Fabry disease (FD) is a monogenic, X-linked lysosomal storage disorder originating from mutations in the GLA gene, which encodes alpha-galactosidase A. Impaired enzyme activity leads to accumulation of the substrate globotriaosylceramide (Gb3) and a multisystemic phenotype. Here, we generated two human induced pluripotent stem cell (hiPSC) lines from a female FD patient carrying a heterozygous c.644A > G missense mutation. The hiPSCs displayed normal karyotype, typical morphology, trilineage differentiation capacity and expressed markers of undifferentiated hPSC state. Consequently, MHHi043-A and MHHi043-B provide a valuable resource for studying FD mechanisms and developing therapeutic strategies.