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Article

Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.

Stem cell research - 1 Dec 2024

Sun Xihao, Mao Shengru, Liang Yuqin, Duan Chunwen, Cui Zekai, Gu Jianing, Jiang Bing, Ding Chengcheng, Chen Jiansu, Tang Shibo

Abstract excerpt

X-linked retinoschisis (XLRS) is a common retinal genetic disease that occurs in juvenile males and causes progressive visual impairment. This presents a schisis in the macula or peripheral retina of bilateral eyes, which has no effective treatment. Here, we introduced the RS1 (c.C304T, p.R102W) mutation into a normal induced pluripotent stem (iPS) cell line using CRISPR/Cas9 technology. This missense mutation...

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Identifiers

PMID: 39232357
DOI: 10.1016/j.scr.2024.103549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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