Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants


Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4, a protein that is expressed in the retina. Induced pluripotent stem cell lines (RMCGENi005-A, SCTCi018-A, SCTCi017-A) were generated by lentivirus reprogramming of fibroblasts derived from Stargardt patients carrying different bi-allelic ABCA4 variants. All the generated lines showed pluripotent characteristics and no chromosomal aberrations. The availability of these lines will allow us to generate patient-derived photoreceptor precursor cells and retinal organoids to further study ABCA4 and thereby, Stargardt disease in relevant model systems carrying the patient's genetic background. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Karjosukarso DW, Bukkems F, Duijkers L, Leijsten N, Hoyng CB, Collin RWJ
Journal Stem cell research
Publication Date 2023 Sep;71:103164
PubMed 37441824
DOI 10.1016/j.scr.2023.103164

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