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

doi:10.1016/j.scr.2020.102053

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

Stem Cell Res. 2020 Dec:49:102053. doi: 10.1016/j.scr.2020.102053. Epub 2020 Oct 19.

Authors

Dian Lu¹, Yanting Xue¹, Bing Song¹, Nengqing Liu¹, Yingjun Xie¹, Yi Cheng¹, Bangzhu Chen¹, Lina He¹, Diyu Chen¹, Juan Zeng¹, Yinghong Yang¹, Xiaoxia Guo¹, Yuanshuai Li¹, Xiaofang Sun²

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. Electronic address: xiaofangsun@gzhmu.edu.cn.

PMID: 33212352
DOI: 10.1016/j.scr.2020.102053

Abstract

Hemophilia A (HA), is a X-linked recessive congenital bleeding disorder, caused by deficiency of the coagulation factorVIII (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 severeHA 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.

Publication types

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

MeSH terms

Cell Line*
Factor VIII / genetics
Hemophilia A* / genetics
Humans
Induced Pluripotent Stem Cells*
Introns
Male
Mutation

Substances

Factor VIII