Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation
Summary
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. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Borisch C, Heise N, Sonnenschein K, Donato ND, Gietz A, Buchegger T, Juchem M, Lachmann N, Bär C, Thum T, Hoepfner J |
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| Journal | Stem cell research |
| Publication Date | 2026 Jul 20;95:104064 |
| PubMed | 42492409 |
| DOI | 10.1016/j.scr.2026.104064 |