Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5


Late-Onset Retinal Degeneration (L-ORD) is a rare autosomal dominant macular disease, with most cases being caused by a founder mutation in C1QTNF5. Initial symptoms, which generally occur during or after the sixth decade, include abnormal dark adaptation and changes in peripheral vision. Over time, the build-up of sub-retinal pigment epithelium (RPE) deposits leads to macular atrophy and bilateral central vision loss1. Here, we describe the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a 61-year-old L-ORD Caucasian male patient carrying the founder mutation (c.489C>G, p.Ser163Arg), using episomal reprogramming. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Alonso-Carriazo Fernández A, Ashley-Norman P, Butt Z, Moosajee M, Carr AF
Journal Stem cell research
Publication Date 2023 Jun;69:103110
PubMed 37207468
DOI 10.1016/j.scr.2023.103110

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