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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
Stem Cell Research ( IF 0.8 ) Pub Date : 2021-01-13 , DOI: 10.1016/j.scr.2021.102175
Zhi-Ting Chen 1 , Zhen-Hua Zhao 2 , Li-Na Chen 1 , Fei Fan 3 , Guo-En Cai 1 , Hui-Dan Weng 1 , Ying-Qing Wang 1 , Lian-Ming Liao 4 , Xiao-Chun Chen 5 , En Huang 6 , Qin-Yong Ye 1
Affiliation  

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.



中文翻译:

从帕金森氏病的遗传性帕金森氏病患者中诱导诱导多能干细胞系FJMUUHi001-A突变,PAR7发生c.189dupA纯合突变

PARK7突变是遗传的帕金森氏病的原因。诱导多能干细胞(iPSC)系FJMUUHi001-A是通过在来自32岁患者的外周血单核细胞中表达5种重编程因子OCT3 / 4,SOX2,c-MYC,KLF4和BCL-XL产生的PARK7中c.189dupA的纯合突变。具有正常核型的iPSC能够分化为三个胚层并表达多能性标记,而没有可检测到的残留质粒。携带截短蛋白PARK7的细胞系FJMUUHi001-A可能是有用的工具,有助于了解iPSC中的PARK7的功能以及从中分化出的细胞。

更新日期:2021-01-20
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