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CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa

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Title: CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa
Authors: Yuqin Liang, Xihao Sun, Hang Chen, Zekai Cui, Jianing Gu, Chunwen Duan, Shengru Mao, Yuexi Chen, Xiaoxue Li, Siqi Xiong, Jiansu Chen
Source: Stem Cell Research, Vol 81, Iss , Pp 103581- (2024)
Publisher Information: Elsevier, 2024.
Publication Year: 2024
Collection: LCC:Biology (General)
Subject Terms: Biology (General), QH301-705.5
More Details: PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002794; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2024.103581
Access URL: https://doaj.org/article/dc87879268074a2e9f7c80185c8dc2f0
Accession Number: edsdoj.87879268074a2e9f7c80185c8dc2f0
Database: Directory of Open Access Journals
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  Data: CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa
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  Data: <searchLink fieldCode="AR" term="%22Yuqin+Liang%22">Yuqin Liang</searchLink><br /><searchLink fieldCode="AR" term="%22Xihao+Sun%22">Xihao Sun</searchLink><br /><searchLink fieldCode="AR" term="%22Hang+Chen%22">Hang Chen</searchLink><br /><searchLink fieldCode="AR" term="%22Zekai+Cui%22">Zekai Cui</searchLink><br /><searchLink fieldCode="AR" term="%22Jianing+Gu%22">Jianing Gu</searchLink><br /><searchLink fieldCode="AR" term="%22Chunwen+Duan%22">Chunwen Duan</searchLink><br /><searchLink fieldCode="AR" term="%22Shengru+Mao%22">Shengru Mao</searchLink><br /><searchLink fieldCode="AR" term="%22Yuexi+Chen%22">Yuexi Chen</searchLink><br /><searchLink fieldCode="AR" term="%22Xiaoxue+Li%22">Xiaoxue Li</searchLink><br /><searchLink fieldCode="AR" term="%22Siqi+Xiong%22">Siqi Xiong</searchLink><br /><searchLink fieldCode="AR" term="%22Jiansu+Chen%22">Jiansu Chen</searchLink>
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  Data: Stem Cell Research, Vol 81, Iss , Pp 103581- (2024)
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  Data: PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.
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