Stem Cell Research (Dec 2020)

Generation of induced pluripotent stem cell GZHMCi002-A from peripheral blood mononuclear cells with APOB mutation

  • Song Bing,
  • Liu Nengqing,
  • Cheng Yi,
  • Lu Dian,
  • Chen Diyu,
  • Xie Yingjun,
  • He lina,
  • Yang Yinghong,
  • Guan Hongmei,
  • Sun Xiaofang

Journal volume & issue
Vol. 49
p. 102054

Abstract

Read online

Apolipoprotein (apo) B is a large, amphipathic glycoprotein which plays an important role in human lipoprotein metabolism. The 43-kb APOB gene located on the short arm of human chromosome 2 and consisted of 29 exons, mutations in the APOB gene can give rise to either hypo- or hypercholesterolemia. We used peripheral blood mononuclear cells (PBMCs) from a volunteer carrying the APOB mutation (c.10579C>T, p.Arg3527Trp) located in exon 9 to establish induced pluripotent stem cells (iPSC), which will be an effective means to reveal the key biologically relevant metabolic mechanisms, a powerful tool for medicine selection and related research.