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) fro...
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| Published in | Stem cell research Vol. 81; p. 103572 |
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| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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England
Elsevier B.V
01.12.2024
Elsevier |
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| 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. |
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| AbstractList | 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. 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.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. |
| ArticleNumber | 103572 |
| Author | Liang, Yuqin Ding, Chengcheng Cui, Zekai Tang, Shibo Liu, Xujie Zhou, Yalan Mao, Shengru Sun, Xihao Duan, Chunwen Gu, Jianing Chen, Jiansu |
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| References | Zhou, Cui, Jing (bib21) 2020; 49 Sun, Cui, Liang (b0015) 2023; 15 Sun (10.1016/j.scr.2024.103572_b0015) 2023; 15 Zhou (10.1016/j.scr.2024.103572_bib21) 2020; 49 |
| References_xml | – volume: 15 year: 2023 ident: b0015 article-title: One-stop assembly of adherent 3D retinal organoids from hiPSCs based on 3D-printed derived PDMS microwell platform publication-title: Biofabrication. – volume: 49 year: 2020 ident: bib21 article-title: Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient publication-title: Stem Cell Res – volume: 49 year: 2020 ident: 10.1016/j.scr.2024.103572_bib21 article-title: Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient publication-title: Stem Cell Res doi: 10.1016/j.scr.2020.102041 – volume: 15 issue: 3 year: 2023 ident: 10.1016/j.scr.2024.103572_b0015 article-title: One-stop assembly of adherent 3D retinal organoids from hiPSCs based on 3D-printed derived PDMS microwell platform publication-title: Biofabrication. doi: 10.1088/1758-5090/acc761 |
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| SubjectTerms | Cell Line Heterozygote Humans Induced Pluripotent Stem Cells - metabolism Mutation Retinitis Pigmentosa - genetics Retinitis Pigmentosa - pathology |
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| Title | 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 |
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