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
  • 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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