Cheng Yu-Che, Lin Han-I, Syu Shih-Han, Lu Huai-En, Huang Ching-Ying, Lin Chin-Hsien, Hsieh Patrick C H
Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
Stem Cell Res. 2019 May;37:101432. doi: 10.1016/j.scr.2019.101432. Epub 2019 Apr 5.
A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive 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 a homozygous PLA2G6 c.991G > T (p.D331Y) mutation by using the Sendai-virus delivery system. The resulting iPSCs showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. This cellular model will provide a good resource for further pathophysiological studies of PD.
PLA2G6基因中的隐性突变已知会导致多种神经退行性临床症状，最近已被证明是常染色体隐性家族性帕金森病（PD）的病因。在此，我们使用仙台病毒递送系统，从一名患有纯合PLA2G6基因c.991G > T（p.D331Y）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）。通过对多能性标志物进行免疫荧光染色证实，所产生的iPSC具有多能性，并在体内分化为三个胚层。该细胞模型将为PD的进一步病理生理学研究提供良好资源。
