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Article

Generation of a human iPSC line (CSUASOi016-A) modeling X-linked retinoschisis by introducing the RS1 c.214G>A mutation using CRISPR/Cas9.

Stem cell research - 1 Sept 2026

Duan Chunwen, Sun Xihao, Ding Chengcheng, Mao Shengru, Liang Yuqin, Liang Yuan, Zhang Ruting, Chen Hang, Chen Jiangsu, Tang Shibo

Abstract excerpt

X-linked retinoschisis (XLRS) is an inherited retinal degenerative disease caused by mutations in the RS1 gene, leading to visual impairment. The RS1 c.214G>A mutation is a clinically relevant variant associated with XLRS. In this study, we generated a human induced pluripotent stem cell (iPSC) line (CSUASOi016-A) carrying the RS1 c.214G>A (p.E72K) mutation using CRISPR/Cas9. The edited iPSC line exhibited...

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Topics

Humans
Induced Pluripotent Stem Cells
Retinoschisis
CRISPR-Cas Systems
Eye Proteins
Cell Line
Mutation
Cell Differentiation
Base Sequence

Source

Identifiers

PMID: 42492408
DOI: 10.1016/j.scr.2026.104060

Genes

RS1
NANOG
SOX2

Variants

RS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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