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Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.

Stem cell research - 1 Dec 2023

Mao Shengru, Sun Xihao, Duan Chunwen, Jiang Bing, Ma Hongjie, Ji Shangli, Liang Yuqin, Zhang Ruting, Chen Jiansu, Tang Shibo

Abstract excerpt

X-linked retinoschisis (XLRS) is one of the most common retinal genetic diseases with progressive visual impairment in childhood affecting males. It is manifested with macular and/or peripheral schisis in neural retinas with no effective treatment. Previously, we successfully generated a human-induced pluripotent stem cell (iPSC) line from an XLRS patient carrying the hemizygous RS1 c. 304C > T (p.R102W)...

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Identifiers

PMID: 38011758
DOI: 10.1016/j.scr.2023.103263

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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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