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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.
- Source :
-
Stem cell research [Stem Cell Res] 2022 May; Vol. 61, pp. 102747. Date of Electronic Publication: 2022 Mar 14. - Publication Year :
- 2022
-
Abstract
- 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.<br /> (Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1876-7753
- Volume :
- 61
- Database :
- MEDLINE
- Journal :
- Stem cell research
- Publication Type :
- Academic Journal
- Accession number :
- 35325818
- Full Text :
- https://doi.org/10.1016/j.scr.2022.102747