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从一名携带LRRK2基因R1628P变体的帕金森病患者身上重编程出的人类诱导多能干细胞(iPSC)系。

Reprogramming of a human induced pluripotent stem cell (iPSC) line from a Parkinson's disease patient with a R1628P variant in the LRRK2 gene.

作者信息

Ma Dongrui, Zhou Wei, Ng Ebonne Yulin, Zeng Li, Zhao Yi, Tan Eng King

机构信息

Neurology, Singapore General Hospital,169608, Singapore.

Neurology, National Neuroscience Institute, 308433, Singapore.

出版信息

Stem Cell Res. 2017 Jan;18:45-47. doi: 10.1016/j.scr.2016.12.011. Epub 2016 Dec 10.

DOI:10.1016/j.scr.2016.12.011
PMID:28395802
Abstract

Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 59-year old male Parkinson's disease (PD) patient with R1628P variant in the LRRK2 gene. The PMBCs were reprogrammed with the human OSKM transcription factors using the Sendai-virus reprogramming system. The transgene-free iPSC showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. The iPSC line also showed normal karyotype. This cellular model will provide a good resource for further pathophysiological studies of PD.

摘要

外周血单个核细胞(PBMCs)取自一名临床诊断为帕金森病(PD)的59岁男性患者,该患者LRRK2基因存在R1628P变异。使用仙台病毒重编程系统,利用人类OSKM转录因子对PBMCs进行重编程。通过对多能性标志物进行免疫荧光染色证实,无转基因的诱导多能干细胞(iPSC)具有多能性,并在体内分化为三个胚层。该iPSC系还显示出正常的核型。这种细胞模型将为帕金森病的进一步病理生理学研究提供良好的资源。

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