Lin Han-I, Cheng Yu-Che, Ko Hui-Wen, Wen Cheng-Hao, Lu Huai-En, Huang Ching-Ying, Hsieh Patrick C H, Lin Chin-Hsien
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
Stem Cell Res. 2019 May;37:101447. doi: 10.1016/j.scr.2019.101447. Epub 2019 Apr 22.
Leucine rich repeat kinase 2 (LRRK2) is the causative gene for autosomal-dominant familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with LRRK2 c.4111A > G (p.I1371V) mutation 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 three germ layers in vivo. This cellular model will provide a platform for studying the role of LRRK2 in the disease process.
富含亮氨酸重复激酶2（LRRK2）是常染色体显性遗传性帕金森病（PD）的致病基因。在此，我们通过仙台病毒递送系统，从一名携带LRRK2基因c.4111A > G（p.I1371V）突变的女性患者的外周血单核细胞中诱导生成了诱导多能干细胞（iPSC）。所获得的iPSC具有正常的核型。通过免疫荧光染色证实这些iPSC也具有多能性，并能在体内分化为三个胚层。该细胞模型将为研究LRRK2在疾病进程中的作用提供一个平台。
