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RPGR 相关性视网膜炎患者来源的视网膜类器官的单细胞转录组数据集。

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

机构信息

Qingdao Institute, College of Medicine, Fudan University, Qingdao, 266500, China.

Department of Ophthalmology, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, 200000, China.

出版信息

Sci Data. 2024 Nov 26;11(1):1285. doi: 10.1038/s41597-024-04124-z.

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.

摘要

X 连锁性视网膜色素变性(XLRP)是一种严重的遗传性视网膜疾病,其特征是由于光感受器功能障碍导致进行性视力丧失。负责大多数 XLRP 病例的视网膜色素变性 GTP 酶调节因子(RPGR)基因编码一种对于光感受器内外节之间视觉信号蛋白运输至关重要的蛋白质。然而,RPGR 突变导致光感受器障碍的机制尚不清楚,有效的治疗方法仍然难以捉摸。本研究利用源自正常和 RPGR 突变的人类诱导多能干细胞(hiPSC)的视网膜类器官(RO)在四个发育阶段(40、90、150 和 200 天)进行了研究。对 71096 个细胞进行了单细胞 RNA 测序(scRNA-seq),包括对照组的 33839 个细胞和 RPGR 组的 37257 个细胞。鉴定了关键的视网膜细胞类型,并且获得的 scRNAseq 数据集被验证为可靠和高质量的。本研究为探索 RPGR 相关视网膜变性的机制提供了数据资源和参考,并支持靶向治疗的发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/df9f/11599861/8b088e906ed6/41597_2024_4124_Fig1_HTML.jpg

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