Stem Cell Research (Aug 2021)

Generation of an induced pluripotent stem cell line (ZJUi007-A) from a 11-year-old patient of Fabry disease

  • Yuqing Zhu,
  • Li Zhang,
  • Gang Wang,
  • Jing Zhao,
  • Xiaolin Hou,
  • Hangdi Wu,
  • Yuming Xu,
  • Jianhua Mao,
  • Zhihong Liu,
  • Jin Zhang

Journal volume & issue
Vol. 55
p. 102475

Abstract

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PBMCs were collected from a patient with a novel GLA gene mutation (c.140G > A) which contributed to Fabry disease. Subsequently, an induced pluripotent stem cell (iPSC) line was derived using an episomal reprogramming method that transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28 and L-MYC into the PBMCs. The expected mutation in the iPSC line was confirmed by Sanger sequencing, while the pluripotency status was validated by immunofluorescence assay and flow cytometry for pluripotency markers, as well as teratoma formation.