Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene


Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Klein T, Günther K, Kwok CK, Edenhofer F, Üçeyler N
Journal Stem cell research
Publication Date 2018 Aug;31:222-226
PubMed 30130681
DOI 10.1016/j.scr.2018.08.009

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