Stem Cell Research (Dec 2020)

Generation of induced pluripotent stem cell GZLSL-i001-A derived from urine-derived cells of Hemophilia A patient with Inv22 mutation

  • Dian Lu,
  • Yanting Xue,
  • Bing Song,
  • Nengqing Liu,
  • Yingjun Xie,
  • Yi Cheng,
  • Bangzhu Chen,
  • Lina He,
  • Diyu Chen,
  • Juan Zeng,
  • Yinghong Yang,
  • Xiaoxia Guo,
  • Yuanshuai Li,
  • Xiaofang Sun

Journal volume & issue
Vol. 49
p. 102053

Abstract

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Hemophilia A (HA), is a X-linked recessive congenital bleeding disorder, caused by deficiency of the coagulation factor VIII (FVIII) which is encoded by coagulation factor 8 (F8). HA affects 1 of every 5,000 males worldwide. The intron 22 inversion (Inv22) mutation of F8 causes about 45% of severe HA cases. Here, we generated induced pluripotent stem cells (iPSCs) from a HA patient with Inv22 mutation by electroporation of urine-derived cells (UCs) with episomal plasmids under feeder-free, virus-free, serum-free condition and without oncogene c-MYC. This iPSCs line could facilitate future applications of human iPSCs by provide a valuable cell model.