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Updated: Aug 6, 2026

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells

Published on: September 25, 2019

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

Chunwen Duan¹, Xihao Sun², Chengcheng Ding²

¹Aier Eye Institute, Changsha 410015, China; Aier Eye Hospital, Jinan University, Guangzhou, Guangdong 510632, China.

Stem Cell Research

|July 23, 2026

Abstract:

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.

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