2. Academic Validation
  3. 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

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 Res. 2021 Mar:51:102175. 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 7
Affiliations

Affiliations

  • 1 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.
  • 2 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.
  • 3 Fujian Health College, Fuzhou 350101, China.
  • 4 Center of Translational Medicine in Hematology, Fujian Medical University Union Hospital, Fuzhou 350001, China.
  • 5 Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350001, China.
  • 6 The School of Basic Medical Sciences, Fujian Medical University, Fuzhou 350122, China. Electronic address: [email protected].
  • 7 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. Electronic address: [email protected].
PMID: 33485186 DOI: 10.1016/j.scr.2021.102175
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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