Stem Cell Res. 2026 Sep;95:104084. doi: 10.1016/j.scr.2026.104084. Epub 2026 Aug 17.
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.
PMID:42628136 | DOI:10.1016/j.scr.2026.104084