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

Dyah W Karjosukarso; Femke Bukkems; Lonneke Duijkers; Nico Leijsten; Carel B Hoyng; Rob W J Collin

doi:10.1016/j.scr.2023.103164

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

Stem Cell Res. 2023 Sep:71:103164. doi: 10.1016/j.scr.2023.103164. Epub 2023 Jul 4.

Authors

Dyah W Karjosukarso¹, Femke Bukkems¹, Lonneke Duijkers¹, Nico Leijsten¹, Carel B Hoyng², Rob W J Collin³

Affiliations

¹ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
² Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
³ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Rob.Collin@radboudumc.nl.

PMID: 37441824
DOI: 10.1016/j.scr.2023.103164

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

ATP-Binding Cassette Transporters / genetics
Chromosome Aberrations
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Retina / metabolism
Stargardt Disease / genetics

Substances

ABCA4 protein, human
ATP-Binding Cassette Transporters