Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC
Summary
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 was consistent with that observed in the XLRS patient-derived iPS cell line (CSUASOi001-A). Conclusively, establishing a directed gene mutation cell line (CSUi007-A) provides a useful cell resource to investigate XLRS pathogenesis. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Sun X, Mao S, Liang Y, Duan C, Cui Z, Gu J, Jiang B, Ding C, Chen J, Tang S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103549 |
| PubMed | 39232357 |
| DOI | 10.1016/j.scr.2024.103549 |