Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease

• DOI: 10.1016/j.scr.2022.102747
• Publication Date: 2022-03-14T23:34:33Z
• Authors: Maximilian Breyer; Thomas Klein; Katharina Klug; Eva Klopocki; Nurcan Üçeyler
• Keywords: Germ layer

Human dermal fibroblasts (HDF) were obtained by skin punch biopsy from a 51-year old man with suspected Fabry disease (FD), carrying the hemizygous c.376A > G variant in α-galactosidase A gene (GLA). Cultured HDF reprogrammed to induced pluripotent stem cells (iPSC) using non-modified RNA-based transfection protocol. GLA-S126G-iPSC exhibit typical embryonic cell-like morphology, normal karyotype, expression of all tested pluripotency markers, and three germ layer differentiation potential. We provide novel patient-specific cell line that can be used investigate genetic variation yet unknown significance.