Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology

• Published in: Stem cell research Vol. 86; p. 103727
• Main Authors: Chen, Hang, Liang, Yuqin, Liang, Yuan, Chen, Yuexi, Li, Xiaoxue, Zhang, Ruting, Duan, Chunwen, Li, Wenwei, Cui, Zekai, Gu, Jianing, Ding, Chengcheng, Sun, Xihao, Chen, Jiansu
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2025; Elsevier
• Subjects: Cell Line; CRISPR-Cas Systems - genetics; Gene Editing; Humans; Induced Pluripotent Stem Cells - cytology; Induced Pluripotent Stem Cells - metabolism; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - metabolism; Retinitis Pigmentosa - pathology
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2025.103727

Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C > T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.