从一名患有 PARK7 基因 c.189dupA 纯合突变的遗传性帕金森病患者中生成诱导多能干细胞系 FJMUUHi001-A。
Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7.
作者信息
Chen Zhi-Ting, Zhao Zhen-Hua, Chen Li-Na, Fan Fei, Cai Guo-En, Weng Hui-Dan, Wang Ying-Qing, Liao Lian-Ming, Chen Xiao-Chun, Huang En, Ye Qin-Yong
机构信息
Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou 350001, China; Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350001, China.
Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350001, China; Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.
出版信息
Stem Cell Res. 2021 Mar;51:102175. doi: 10.1016/j.scr.2021.102175. Epub 2021 Jan 13.
PARK7 mutations are accountable for the inherited Parkinson's disease. An induced pluripotent stem cell (iPSC) line FJMUUHi001-A was generated by expressing five reprogramming factors, OCT3/4, SOX2, c-MYC, KLF4 and BCL-XL, in peripheral blood mononuclear cells from a 32-year old patient carrying a homozygous mutation of c.189dupA in PARK7. The iPSCs with a normal karyotype had the abilities to differentiate into three germ layers and expressed pluripotency markers without detectable residual plasmids. The cell line FJMUUHi001-A carrying the truncating protein PARK7 could be a useful tool to help comprehend the function of PARK7 in the iPSCs and differentiated cells from them.
PARK7突变是遗传性帕金森病的病因。通过在一名携带PARK7基因c.189dupA纯合突变的32岁患者的外周血单核细胞中表达五个重编程因子OCT3/4、SOX2、c-MYC、KLF4和BCL-XL，生成了诱导多能干细胞（iPSC）系FJMUUHi001-A。具有正常核型的iPSC具有分化为三个胚层的能力，并表达多能性标志物，且未检测到残留质粒。携带截短蛋白PARK7的细胞系FJMUUHi001-A可能是帮助理解PARK7在iPSC及其分化细胞中的功能的有用工具。
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