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

从 PARK7 中 c.189dupA 纯合突变的遗传性帕金森病患者体内生成诱导性多能干细胞系 FJMUUHi001-A

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作者:Zhi-Ting Chen, Zhen-Hua Zhao, Li-Na Chen, Fei Fan, Guo-En Cai, Hui-Dan Weng, Ying-Qing Wang, Lian-Ming Liao, Xiao-Chun Chen, En Huang, Qin-Yong Ye

Abstract

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.

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