Generation of a human iPSC line (CSUASOi016-A) modeling X-linked retinoschisis by introducing the RS1 c.214G>A mutation using CRISPR/Cas9
Summary
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 typical pluripotent stem cell morphology, expressed pluripotency markers (OCT4, SSEA4, SOX2, and NANOG), and retained the ability to differentiate into all three germ layers. This cell line provides a valuable resource for modeling XLRS pathogenesis and developing therapeutic strategies. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Duan C, Sun X, Ding C, Mao S, Liang Y, Liang Y, Zhang R, Chen H, Chen J, Tang S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jul 16;95:104060 |
| PubMed | 42492408 |
| DOI | 10.1016/j.scr.2026.104060 |