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


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 the α-galactosidase A gene (GLA). Cultured HDF were reprogrammed to induced pluripotent stem cells (iPSC) using a non-modified RNA-based transfection protocol. GLA-S126G-iPSC exhibit typical embryonic stem cell-like morphology, normal karyotype, expression of all tested pluripotency markers, and three germ layer differentiation potential. We provide a novel patient-specific cell line that can be used to investigate a genetic variation of yet unknown significance. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Breyer M, Klein T, Klug K, Klopocki E, Üçeyler N
Journal Stem cell research
Publication Date 2022 May;61:102747
PubMed 35325818
DOI 10.1016/j.scr.2022.102747

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