Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation
Summary
Fabry disease (FD) is a rare and inherited monogenetic disease caused by mutations in the X-chromosomal alpha-galactosidase A gene GLA concomitant with accumulation of its substrate globotriaosylceramide (Gb3) and multi-organ symptoms. We derived an induced pluripotent stem cell line, MHHi029-A, from a male FD patient carrying a c.959A > T missense mutation in the GLA gene. The hiPSCs show a normal karyotype, expression of pluripotency markers and trilineage differentiation capacity. Importantly, they present the patient-specific mutation in the GLA gene and are therefore a valuable resource for investigating the FD mechanism and identifying novel therapies. Copyright © 2024. Published by Elsevier B.V.
| Authors | Jahn C, Juchem M, Sonnenschein K, Gietz A, Buchegger T, Lachmann N, Göhring G, Behrens YL, Bär C, Thum T, Hoepfner J |
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| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103404 |
| PubMed | 38552356 |
| DOI | 10.1016/j.scr.2024.103404 |