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

Alonso-Carriazo Fernández, Ana; Ashley-Norman, Phoebe; Butt, Zaynab; Moosajee, Mariya; Carr, Amanda-Jayne Francis; (2023) Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5. Stem Cell Research , 69 , Article 103110. 10.1016/j.scr.2023.103110. Green open access

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Abstract

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.

Type: Article
Title: Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.scr.2023.103110
Publisher version: https://doi.org/10.1016/j.scr.2023.103110
Language: English
Additional information: © 2023 The Author(s). Published by Elsevier B.V. under a Creative Commons license (http://creativecommons.org/licenses/by/4.0/).
Keywords: L-ORD, Late-Onset Retinal Degeneration, iPSC, induced Pluripotent Stem Cell, RPERetinal Pigment Epithelium
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10171064
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