Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation

作者：Carla Borisch, Nick Heise, Kristina Sonnenschein, Nataliya Di Donato, Anika Gietz, Theresa Buchegger, Malte Juchem, Nico Lachmann, Christian Bär, Thomas Thum, Jeannine Hoepfner · 发表于：Stem Cell Research · 年份：2026 · DOI：10.1016/j.scr.2026.104064 · 研究领域：Lysosomal Storage Disorders Research、Glycogen Storage Diseases and Myoclonus、Pluripotent Stem Cells Research

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.