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Article

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

Human molecular genetics - 15 Feb 2015

Schwarz Nele, Carr Amanda-Jayne, Lane Amelia, Moeller Fabian, Chen Li Li, Aguilà Mònica, Nommiste Britta, Muthiah Manickam N, Kanuga Naheed, Wolfrum Uwe, Nagel-Wolfrum Kerstin, da Cruz Lyndon, Coffey Peter J, Cheetham Michael E, Hardcastle Alison J

Abstract excerpt

Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are currently available to restore RP2 function. In this study, we reprogrammed fibroblasts from an RP2 patient carrying the nonsense mutation c.519C>T (p.R120X) into induced pluripotent stem cells (iPSC), and differentiated these cells into retinal pigment...

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Identifiers

PMID: 25292197
DOI: 10.1093/hmg/ddu509
PMCID: PMC4986549

Genes

RPE
IFT20

Variants

Provenance

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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