Generation of induced pluripotent stem cell GZHMCi002-A from peripheral blood mononuclear cells with APOB mutation
oleh: Song Bing, Liu Nengqing, Cheng Yi, Lu Dian, Chen Diyu, Xie Yingjun, He lina, Yang Yinghong, Guan Hongmei, Sun Xiaofang
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-12-01 |
Deskripsi
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.