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