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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.

Stem cell research - 1 Jun 2023

Alonso-Carriazo Fernández Ana, Ashley-Norman Phoebe, Butt Zaynab, Moosajee Mariya, Carr Amanda-Jayne Francis

Abstract excerpt

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...

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Identifiers

PMID: 37207468
DOI: 10.1016/j.scr.2023.103110

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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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