Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene


Retinitis pigmentosa (RP) is one of the most common inherited retinal diseases characterized by nyctalopia, progressive vision loss and visual field contraction. we previously generated an induced pluripotent stem cell line (CSUASOi004-A) from a RP patient with heterozygous PRPF6 c.2699 G>A (p.R900H) mutation. Here we corrected the PRPF6 c.2699 G>A mutation genetically using CRISPR/Cas9 technology to generate an isogenic control (CSUASOi004-A-1), which can provide a valuable resource in the research of the disease. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Liang Y, Sun X, Duan C, Zhou Y, Cui Z, Ding C, Gu J, Mao S, Ji S, Chan HF, Tang S, Chen J
Journal Stem cell research
Publication Date 2022 Sep 6;64:102911
PubMed 36103774
DOI 10.1016/j.scr.2022.102911

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