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) 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.

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Publication Details

Journal
Stem Cell Research
Published
2024-10-05
DOI
https://doi.org/10.1016/j.scr.2024.103572
Citations
2
Primary Topic
Retinal Development and Disorders
Type
article
Field-Weighted Citation Impact
0.47
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article

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

Xihao Sun, Jiansu Chen, Yuqin Liang, Zekai Cui et al.
2 citations
Stem Cell Research
Retinal Development and Disorders
0.47
article

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

Xihao Sun, Jiansu Chen, Yuqin Liang, Zekai Cui, Shibo Tang, Yalan Zhou, Xujie Liu, Shengru Mao, Chunwen Duan, Jianing Gu, Chengcheng Ding
article en
2 citations

Abstract

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.

Stem Cell ResearchVol. 81
Central South University (CN), Jinan University (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Second Xiangya Hospital of Central South University (CN), He Eye Hospital (CN), Xiangya Hospital Central South University (CN), Affiliated Hospital of Jining Medical University (CN)
Zero hunger
Openalex Percentile: Top 35%
Retinal Development and Disorders
0.47
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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 — Xihao Sun, Jiansu Chen, et al. · Stem Cell Research (2024) | TGRS Research Map | TGRS