Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene

• Published in: Stem cell research Vol. 81; p. 103572
• Main Authors: Sun, Xihao, Liang, Yuqin, Duan, Chunwen, Liu, Xujie, Zhou, Yalan, Mao, Shengru, Cui, Zekai, Gu, Jianing, Ding, Chengcheng, Chen, Jiansu, Tang, Shibo
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2024; Elsevier
• Subjects: Cell Line; Heterozygote; Humans; Induced Pluripotent Stem Cells - metabolism; Mutation; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - pathology
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103572

Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation. Here, we corrected the mutation sites in PRPF8 (c.C5792T) using an adenine base editor and then generated an isogenic control (CSUASOi006-A-1), which is a valuable cell resource for research of RP.