Jahn, C.C.JahnJuchem, M.M.JuchemSonnenschein, K.K.SonnenscheinGietz, A.A.GietzBuchegger, T.T.BucheggerLachmann, NicoNicoLachmannGöhring, G.G.GöhringBehrens, Y.L.Y.L.BehrensBär, ChristianChristianBärThum, T.T.ThumHoepfner, J.J.Hoepfner2024-05-142024-05-142024https://publica.fraunhofer.de/handle/publica/46785010.1016/j.scr.2024.1034042-s2.0-8518948976338552356Fabry 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.enjournal article