Stem Cell Res. 2026 Jul 20;95:104064. doi: 10.1016/j.scr.2026.104064. Online ahead of print.
ABSTRACT
Fabry disease (FD) is an X-linked, monogenic lysosomal storage disorder, caused by mutations in the GLA gene. GLA encodes the lysosomal hydrolase alpha-galactosidase A and enzyme deficiency leads to accumulation of its substrate globotriaosylceramide (Gb3), culminating in multisystemic symptoms. Here, we generated a human induced pluripotent stem cell line from a female FD patient, carrying a c.644A > G missense mutation. The hiPSCs showed a normal karyotype, typical stem cell morphology, expression of pluripotency markers and were capable of trilineage differentiation. Therefore, MHHi040-A represents a valuable resource for future FD studies, investigating both disease mechanisms as well as novel therapeutic strategies.
PMID:42492409 | DOI:10.1016/j.scr.2026.104064