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

• Published in: Stem cell research Vol. 81; p. 103549
• Main Authors: Sun, Xihao, Mao, Shengru, Liang, Yuqin, Duan, Chunwen, Cui, Zekai, Gu, Jianing, Jiang, Bing, Ding, Chengcheng, Chen, Jiansu, Tang, Shibo
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2024; Elsevier
• Subjects: Cell Line; CRISPR-Cas Systems - genetics; Eye Proteins - genetics; Eye Proteins - metabolism; Humans; Induced Pluripotent Stem Cells - metabolism; Male; Mutation; Retinoschisis - genetics; Retinoschisis - pathology

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) mut...