Lin Chin-Hsien, Cheng Yu-Che, Lin Han-I, Ho Ming-Ching, Hsu Yu-Hung, Wen Cheng-Hao, Ko Hui-Wen, Lu Huai-En, Huang Ching-Ying, Hsieh Patrick C H
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
Stem Cell Res. 2017 Dec;25:123-127. doi: 10.1016/j.scr.2017.10.020. Epub 2017 Oct 31.
Parkinson's disease (PD) is a progressive neurodegenerative disorder caused by interactions between genetic and environmental factors. Leucine rich repeat kinase (LRRK2) is the most prevalent mutation in autosomal-dominant inheritance of PD. Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with p.I2012T mutation in LRRK2 gene by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency confirmed by immunofluorescent staining and differentiated into the 3 germ layers in vivo. This cellular model will provide a useful platform for further pathophysiological studies of PD.
帕金森病（PD）是一种由遗传和环境因素相互作用引起的进行性神经退行性疾病。富含亮氨酸重复激酶（LRRK2）是帕金森病常染色体显性遗传中最常见的突变。在此，我们通过仙台病毒递送系统，从一名LRRK2基因发生p.I2012T突变的女性患者的外周血单个核细胞中生成了诱导多能干细胞（iPSC）。所产生的iPSC具有正常的核型。这些iPSC通过免疫荧光染色证实具有多能性，并在体内分化为三个胚层。该细胞模型将为帕金森病进一步的病理生理学研究提供一个有用的平台。
