Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
Summary
Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (iPSC) line was generated from late-onset STGD1 patient-derived fibroblasts harboring bi-allelic ABCA4 variants by lentivirus-induced reprogramming. The obtained iPSC line (RMCGENi020-A) showed pluripotent features after the reprogramming process. The generation of this iPSC line facilitates its use to differentiate it into relevant retinal-like cell models, with the aim to adequately evaluate the effects of the ABCA4 variants. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Suárez-Herrera N, Leijsten N, Albert S, Bax NM, Hoyng CB, Cremers FPM, Garanto A, Collin RWJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103252 |
| PubMed | 37979432 |
| DOI | 10.1016/j.scr.2023.103252 |