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Updated: Jul 23, 2025

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells
Published on: December 9, 2022
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants
Dyah W Karjosukarso1, Femke Bukkems1, Lonneke Duijkers1
1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Abstract:
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.
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