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Karjosukarso, Dyah W.; Bukkems, Femke; Duijkers, Lonneke; Leijsten, Nico; Hoyng, Carel B.; Collin, Rob W.J.
Stem cell research, 09/2023, Letnik: 71Journal Article
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.
