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...

Full description

Saved in:
Bibliographic Details
Main Authors: Ting Li, Yuting Ma, Yun Cheng, Yingke Zhao, Zhixu Qiu, Hongli Liu, Daowei Zhang, Jiawen Wu, Junfeng Li, Shenghai Zhang, Jihong Wu
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Data
Online Access:https://doi.org/10.1038/s41597-024-04124-z
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1846148142122139648
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
work_keys_str_mv AT tingli singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT yutingma singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT yuncheng singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT yingkezhao singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT zhixuqiu singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT hongliliu singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT daoweizhang singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT jiawenwu singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT junfengli singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT shenghaizhang singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids
AT jihongwu singlecelltranscriptomicdatasetofrpgrassociatedretinitispigmentosapatientderivedretinalorganoids