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

Authors :
Yuqin Liang
Xihao Sun
Chunwen Duan
Yalan Zhou
Zekai Cui
Chengcheng Ding
Jianing Gu
Shengru Mao
Shangli Ji
Hon Fai Chan
Shibo Tang
Jiansu Chen
Source :
Stem cell research. 64
Publication Year :
2022

Abstract

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 GA (p.R900H) mutation. Here we corrected the PRPF6 c.2699 GA 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.

Details

ISSN :
18767753
Volume :
64
Database :
OpenAIRE
Journal :
Stem cell research
Accession number :
edsair.doi.dedup.....29b745aa3700ce3f329cd98a771a20aa