CRISPR/Cas9-based GLA knockout to generate the female Fabry disease human induced pluripotent stem cell line MHHi001-A-15.

Autor:	Juchem M; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany; Fraunhofer Institute for Toxicology and Experimental Medicine (ITEM), Hannover, Germany., Lehmann N; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany., Behrens YL; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bär C; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany; Fraunhofer Institute for Toxicology and Experimental Medicine (ITEM), Hannover, Germany; Center of Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Thum T; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany; Center of Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Hoepfner J; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany. Electronic address: hoepfner.jeannine@mh-hannover.de.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103478. Date of Electronic Publication: 2024 Jun 20.
DOI:	10.1016/j.scr.2024.103478
Abstrakt:	The X-linked lysosomal storage disorder Fabry disease originates from GLA gene mutations causing α-galactosidase A enzyme deficiency. Here we generated the GLA knockout hiPSC line MHHi001-A-15 (GLA-KOhiPSC) as an in vitro Fabry disease model by targeting exon 2 of the GLA gene by CRISPR/Cas9 in the established control hiPSC line MHHi001-A. GLA-KOhiPSCs retained the expression of pluripotency markers, trilineage differentiation potential, as well as normal karyotype and stem cell morphology but lacked α-galactosidase A enzyme activity. The GLA-KOhiPSCs represent a potent resource to not only study the Fabry disease manifestation but also screen for novel treatment options. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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