Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology

Hang Chen; Yuqin Liang; Yuexi Chen; Yuan Liang; Xiaoxue Li; Chunwen Duan; Zekai Cui; Jianing Gu; Chengcheng Ding; Xihao Sun; Jiansu Chen

Stem Cell Research (Apr 2025)

Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology

Hang Chen,
Yuqin Liang,
Yuexi Chen,
Yuan Liang,
Xiaoxue Li,
Chunwen Duan,
Zekai Cui,
Jianing Gu,
Chengcheng Ding,
Xihao Sun,
Jiansu Chen

Affiliations

Hang Chen: Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou 510632, China; Aier Eye Institute, Changsha 410015, China
Yuqin Liang: Aier Eye Institute, Changsha 410015, China; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan, China
Yuexi Chen: Aier Eye Institute, Changsha 410015, China
Yuan Liang: Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou 510632, China
Xiaoxue Li: Aier Eye Institute, Changsha 410015, China; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan, China
Chunwen Duan: Aier Eye Institute, Changsha 410015, China; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan, China
Zekai Cui: Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China
Jianing Gu: Aier Eye Institute, Changsha 410015, China
Chengcheng Ding: Aier Eye Institute, Changsha 410015, China
Xihao Sun: Aier Eye Institute, Changsha 410015, China; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Corresponding authors at: Aier Eye Institute, Changsha 410015, China.
Jiansu Chen: Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou 510632, China; Aier Eye Institute, Changsha 410015, China; Corresponding authors at: Aier Eye Institute, Changsha 410015, China.

Journal volume & issue: Vol. 84
p. 103689

Abstract

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Mutations in the PRPF8 gene frequently result in retinitis pigmentosa (RP), an autosomal dominant inherited retinal disease that can lead to nyctalopia and progressive vision loss. Currently, no effective treatment is available. In this study, we used CRISPR/Cas9 technology to introduce a heterozygous point mutation in the PRPF8 gene of a normal induced pluripotent stem cell (iPSC) line. This mutation mirrors that found in a previously reported RP patient-derived iPSC line (CSUASOi006-A) from our group. Establishing the PRPF8 gene mutation cell line (CSUASOi012-A-2) provides a valuable cellular resource for studying the pathogenesis 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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