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Article

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

Stem cell research - 1 Dec 2023

Suárez-Herrera Nuria, Leijsten Nico, Albert Silvia, Bax Nathalie M, Hoyng Carel B, Cremers Frans P M, Garanto Alejandro, Collin Rob W J

Abstract excerpt

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...

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Identifiers

PMID: 37979432
DOI: 10.1016/j.scr.2023.103252

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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