Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A.

Abstract

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.

• Authors: Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M Bax, Carel B Hoyng, Frans P M Cremers, Alejandro Garanto, Rob W J Collin
• Journal: Stem cell research (Stem Cell Res) Vol. 73 Pg. 103252 (12 2023) ISSN: 1876-7753 [Electronic] England
• PMID: 37979432 (Publication Type: Journal Article)
• Copyright: Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• ABCA4 protein, human
• ATP-Binding Cassette Transporters

Topics

• Humans
• ATP-Binding Cassette Transporters (genetics)
• Induced Pluripotent Stem Cells (pathology)
• Macular Degeneration (genetics, pathology)
• Mutation
• Stargardt Disease (pathology)