Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids

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.

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Publication Details

Journal
Scientific Data
Published
2024-11-26
DOI
https://doi.org/10.1038/s41597-024-04124-z
Citations
4
Primary Topic
Retinal Development and Disorders
Type
article
Field-Weighted Citation Impact
0.94

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article

Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids

Yuting Ma, Daowei Zhang, Zhixu Qiu, Ting Li et al.
4 citations
Scientific Data
Retinal Development and Disorders
0.94
article

Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids

Yuting Ma, Daowei Zhang, Zhixu Qiu, Ting Li, Hongli Liu, Junfeng Li, Shenghai Zhang, Yingke Zhao, Jihong Wu, Yun Cheng, Jiawen Wu
article en
4 citations

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.

Scientific DataVol. 11(1)
BGI Group (China) (CN), Qingdao University (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Fudan University (CN), National Health and Family Planning Commission (CN), Eye & ENT Hospital of Fudan University (CN), Science and Technology Commission of Shanghai Municipality (CN), University of Chinese Academy of Sciences (CN), BGI Genomics
National Key Research and Development Program of China
Zero hunger
Openalex Percentile: Top 25%
Retinal Development and Disorders
0.94
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