Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.

Autor:	Karjosukarso DW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bukkems F; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Duijkers L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Leijsten N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Collin RWJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: rob.collin@radboudumc.nl.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103169. Date of Electronic Publication: 2023 Jul 17.
DOI:	10.1016/j.scr.2023.103169
Abstrakt:	Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4. Employing the CRISPR/Cas9 approach, we generated isogenic control lines (RMCGENi005-A-1, RMCGENi018-A-1, RMCGENi017-A-1) for each of three induced pluripotent stem cell lines (RMCGENi005-A, RMCGENi018-A, RMCGENi017-A) derived from Stargardt patients carrying compound heterozygous ABCA4 variants. All of the generated lines showed pluripotent characteristics, no chromosomal aberrations and no indication of off-targets. The availability of these isogenic control lines will allow us to have a fair comparison between health and disease state within our studies on Stargardt disease. 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 © 2023. Published by Elsevier B.V.)
Databáze:	MEDLINE
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