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

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) fro...

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Veröffentlicht in:Stem cell research 2024-12, Vol.81, p.103572, Article 103572
Hauptverfasser: Sun, Xihao, Liang, Yuqin, Duan, Chunwen, Liu, Xujie, Zhou, Yalan, Mao, Shengru, Cui, Zekai, Gu, Jianing, Ding, Chengcheng, Chen, Jiansu, Tang, Shibo
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Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103572