Stem Cell Research (May 2021)

Reprogramming of human peripheral blood mononuclear cells from a patient suffering from recurrent hydatidiform mole to an iPSC line FAHZUi001-A carrying a homozygous p.Gln421Ter mutation in NLRP7 gene

  • Tingyu Gong,
  • Hongkun Wang,
  • Bo Huang,
  • Hao Wang,
  • Peiwen Zhang,
  • Jianhua Qian

Journal volume & issue
Vol. 53
p. 102361

Abstract

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Recurrent hydatidiform mole (RHM) is characterized by the occurrence of at least twice hydatidiform mole. Unlike sporadic complete hydatidiform moles (CHMs), which are androgenetic with 2 paternal chromosomes, CHMs associated with familial recurrence are genetically biparental with a maternal and a paternal chromosome. NLRP7 mutations have been reported in 55% of RHM cases. Here, we generated induced pluripotent stem cells (iPSCs) from a patent with NLRP7 gene mutation c.1261C > T by reprogramming peripheral blood mononuclear cells by non-integrated method. The resulting iPSCs carrying NLRP7 mutation, had normal karyotype, expressed pluripotency markers, and could differentiate into three germ layers in vivo.