Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology

Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) ce...

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Published inStem cell research Vol. 86; p. 103727
Main Authors Chen, Hang, Liang, Yuqin, Liang, Yuan, Chen, Yuexi, Li, Xiaoxue, Zhang, Ruting, Duan, Chunwen, Li, Wenwei, Cui, Zekai, Gu, Jianing, Ding, Chengcheng, Sun, Xihao, Chen, Jiansu
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.08.2025
Elsevier
Subjects
Cell Line
CRISPR-Cas Systems - genetics
Gene Editing
Humans
Induced Pluripotent Stem Cells - cytology
Induced Pluripotent Stem Cells - metabolism
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - metabolism
Retinitis Pigmentosa - pathology
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Abstract Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C > T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.
AbstractList Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C > T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.
Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C > T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C > T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.
ArticleNumber 103727
Author Liang, Yuqin
Liang, Yuan
Chen, Yuexi
Ding, Chengcheng
Duan, Chunwen
Sun, Xihao
Chen, Jiansu
Chen, Hang
Li, Xiaoxue
Cui, Zekai
Zhang, Ruting
Li, Wenwei
Gu, Jianing
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10.1016/j.scr.2024.103572
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SubjectTerms Cell Line
CRISPR-Cas Systems - genetics
Gene Editing
Humans
Induced Pluripotent Stem Cells - cytology
Induced Pluripotent Stem Cells - metabolism
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - metabolism
Retinitis Pigmentosa - pathology
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Title Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology
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