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诱导多能干细胞(NIMHi015-A)的产生,来源于一位携带 PRKN 基因外显子 3 纯合缺失的帕金森病患者。

Generation of induced pluripotent stem cells (NIMHi015-A) from a Parkinson's Disease patient harbouring a homozygous Exon 3 deletion in the PRKN gene.

机构信息

Department of Biophysics, National Institute of Mental Health and Neurosciences, Bengaluru 560029, Karnataka, India.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560029, Karnataka, India.

出版信息

Stem Cell Res. 2024 Jun;77:103440. doi: 10.1016/j.scr.2024.103440. Epub 2024 May 9.

Abstract

The Parkin (PRKN) gene mutation is prevalent in young-onset Parkinson's disease (PD), typically emerging before age 30, accompanied by early motor symptoms. Induced pluripotent stem cells (iPSCs) were derived from peripheral blood mononuclear cells of a PD patient with an exon 3 deletion in PRKN using Sendai-virus reprogramming. PD diagnosis was confirmed via the Unified Parkinson's Disease Rating Scale (UPDRS). Characterization of the iPSC line ensured self-renewal and pluripotency. This resource serves as a valuable platform for drug screening and elucidating the pathophysiology of this mutation, facilitating advancements in PD research.

摘要

Parkin(PRKN)基因突变在早发性帕金森病(PD)中很常见,通常在 30 岁之前出现,伴有早期运动症状。通过使用 Sendai 病毒重编程,从 PRKN 外显子 3 缺失的 PD 患者的外周血单核细胞中获得诱导多能干细胞(iPSC)。通过统一帕金森病评定量表(UPDRS)确认 PD 诊断。iPSC 系的特征在于自我更新和多能性。该资源是药物筛选和阐明该突变病理生理学的有价值的平台,有助于 PD 研究的进展。

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