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.
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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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