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

doi:10.1016/j.scr.2020.102054

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

Stem Cell Res. 2020 Dec:49:102054. doi: 10.1016/j.scr.2020.102054. Epub 2020 Oct 16.

Authors

Song Bing¹, Liu Nengqing¹, Cheng Yi¹, Lu Dian¹, Chen Diyu¹, Xie Yingjun¹, He Lina¹, Yang Yinghong¹, Guan Hongmei¹, Sun Xiaofang²

Affiliations

¹ Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
² Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China; Guangzhou Regenerative Medicine and Health Guangdong Laboratory, 510005 Guangzhou, China. Electronic address: xiaofangsun@gzhmu.edu.cn.

PMID: 33128957
DOI: 10.1016/j.scr.2020.102054

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Apolipoproteins B / genetics
Exons / genetics
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Mutation / genetics

Substances

Apolipoproteins B