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; Yuqin Liang; Chunwen Duan; Xujie Liu; Yalan Zhou; Shengru Mao; Zekai Cui; Jianing Gu; Chengcheng Ding; Jiansu Chen; Shibo Tang

Stem Cell Research (Dec 2024)

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,
Yuqin Liang,
Chunwen Duan,
Xujie Liu,
Yalan Zhou,
Shengru Mao,
Zekai Cui,
Jianing Gu,
Chengcheng Ding,
Jiansu Chen,
Shibo Tang

Affiliations

Xihao Sun: Aier Eye Institute, Changsha, Hunan, China; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan, China
Yuqin Liang: Aier Eye Institute, Changsha, Hunan, China; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan, China
Chunwen Duan: Aier Eye Institute, Changsha, Hunan, China; The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Xujie Liu: Fuwai Hospital Chinese Academy of Medical Sciences, Shenzhen, China
Yalan Zhou: Department of Ophthalmology, Affiliated Hospital of Jining Medical University, Jining, Shandong, China
Shengru Mao: Aier Eye Institute, Changsha, Hunan, China; The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Zekai Cui: Aier Eye Institute, Changsha, Hunan, China
Jianing Gu: Aier Eye Institute, Changsha, Hunan, China
Chengcheng Ding: Aier Eye Institute, Changsha, Hunan, China
Jiansu Chen: Aier Eye Institute, Changsha, Hunan, China; Key Laboratory of Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou, Guangdong, China; Corresponding authors.
Shibo Tang: Aier Eye Institute, Changsha, Hunan, China; Guangzhou Aier Eye Hospital, Guangzhou, Guangdong, China; Corresponding authors.

Journal volume & issue: Vol. 81
p. 103572

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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