Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency, resulting in progressive accumulation of globotriaosylceramide and related glycosphingolipids, leading to progressive organ damage (including the heart, kidney, and brain). The GLA variant c.427G > A p.(Ala143Thr) is currently classified as a "variant of uncertain significance" (VUS). There is no consensus about this variant's significance in the literature and it remains controversial in non-classical FD. We generated a human induced pluripotent stem cell (hiPSC) line derived from dermal fibroblasts of a 64-year-old hemizygous man carrying the p.(Ala143Thr) variant, using an RNA-based reprogramming method.