Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids
Abstract X-linked retinitis pigmentosa (XLRP) is a severe hereditary retinal disorder marked by progressive vision loss due to photoreceptor dysfunction. The retinitis pigmentosa GTPase regulator (RPGR) gene, responsible for most XLRP cases, encodes a protein crucial for the transport of visual sign...
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| Format: | Article |
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Nature Portfolio
2024-11-01
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| Series: | Scientific Data |
| Online Access: | https://doi.org/10.1038/s41597-024-04124-z |
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| author | Ting Li Yuting Ma Yun Cheng Yingke Zhao Zhixu Qiu Hongli Liu Daowei Zhang Jiawen Wu Junfeng Li Shenghai Zhang Jihong Wu |
| author_facet | Ting Li Yuting Ma Yun Cheng Yingke Zhao Zhixu Qiu Hongli Liu Daowei Zhang Jiawen Wu Junfeng Li Shenghai Zhang Jihong Wu |
| author_sort | Ting Li |
| collection | DOAJ |
| description | Abstract X-linked retinitis pigmentosa (XLRP) is a severe hereditary retinal disorder marked by progressive vision loss due to photoreceptor dysfunction. The retinitis pigmentosa GTPase regulator (RPGR) gene, responsible for most XLRP cases, encodes a protein crucial for the transport of visual signal proteins between the photoreceptor inner and outer segments. However, the mechanism of RPGR mutation causing photoreceptor disorder is not clear and effective treatments remain elusive. This study utilized retinal organoids (ROs) derived from normal and RPGR-mutant human induced pluripotent stem cells (hiPSC) at four developmental stages (40, 90, 150, and 200 days). Single-cell RNA sequencing (scRNA-seq) was conducted on 71,096 cells, including 33,839 cells from the control group and 37,257 cells from the RPGR group. Key retinal cell types were identified and the obtained scRNAseq dataset was validated reliable and high -quality. This study has provided data resources and references for exploring the mechanism of RPGR-related retinal degeneration and support the development of targeted therapies. |
| format | Article |
| id | doaj-art-e54fbb141ee14b78b497a2b75a95c767 |
| institution | Kabale University |
| issn | 2052-4463 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Data |
| spelling | doaj-art-e54fbb141ee14b78b497a2b75a95c7672024-12-01T12:09:19ZengNature PortfolioScientific Data2052-44632024-11-0111111010.1038/s41597-024-04124-zSingle-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal OrganoidsTing Li0Yuting Ma1Yun Cheng2Yingke Zhao3Zhixu Qiu4Hongli Liu5Daowei Zhang6Jiawen Wu7Junfeng Li8Shenghai Zhang9Jihong Wu10Qingdao Institute, College of Medicine, Fudan UniversityCollege of Life Sciences, University of Chinese Academy of SciencesDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityBGI GenomicsDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityDepartment of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan UniversityQingdao Institute, College of Medicine, Fudan UniversityAbstract X-linked retinitis pigmentosa (XLRP) is a severe hereditary retinal disorder marked by progressive vision loss due to photoreceptor dysfunction. The retinitis pigmentosa GTPase regulator (RPGR) gene, responsible for most XLRP cases, encodes a protein crucial for the transport of visual signal proteins between the photoreceptor inner and outer segments. However, the mechanism of RPGR mutation causing photoreceptor disorder is not clear and effective treatments remain elusive. This study utilized retinal organoids (ROs) derived from normal and RPGR-mutant human induced pluripotent stem cells (hiPSC) at four developmental stages (40, 90, 150, and 200 days). Single-cell RNA sequencing (scRNA-seq) was conducted on 71,096 cells, including 33,839 cells from the control group and 37,257 cells from the RPGR group. Key retinal cell types were identified and the obtained scRNAseq dataset was validated reliable and high -quality. This study has provided data resources and references for exploring the mechanism of RPGR-related retinal degeneration and support the development of targeted therapies.https://doi.org/10.1038/s41597-024-04124-z |
| spellingShingle | Ting Li Yuting Ma Yun Cheng Yingke Zhao Zhixu Qiu Hongli Liu Daowei Zhang Jiawen Wu Junfeng Li Shenghai Zhang Jihong Wu Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids Scientific Data |
| title | Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids |
| title_full | Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids |
| title_fullStr | Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids |
| title_full_unstemmed | Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids |
| title_short | Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids |
| title_sort | single cell transcriptomic dataset of rpgr associated retinitis pigmentosa patient derived retinal organoids |
| url | https://doi.org/10.1038/s41597-024-04124-z |
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