Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2

Jiehui Ma; Kun Ni; Wei Cai; Bingying Li; Qiaoqiao Qian; Dan Sun

doi:10.1016/j.scr.2021.102589

Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2

Stem Cell Res. 2021 Dec:57:102589. doi: 10.1016/j.scr.2021.102589. Epub 2021 Oct 30.

Authors

Jiehui Ma¹, Kun Ni¹, Wei Cai¹, Bingying Li², Qiaoqiao Qian¹, Dan Sun³

Affiliations

¹ Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China.
² Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China.
³ Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China. Electronic address: bloveriver@163.com.

PMID: 34736036
DOI: 10.1016/j.scr.2021.102589

Abstract

Brown-Vialetto-Van Laere syndrome-2 is a rare neurological disorder characterized by sensory neuronopathy and pontobulbar palsy, caused by variations in SLC52A2 and SLC52A3 genes, encoding the riboflavin transporters. By reprogramming with SOX2, KLF4, c-MYC and OCT3/4, we generated an iPSC cell line from peripheral blood mononuclear cells (PBMCs) collected from a three-year-old Chinese female individual to be used as a disease model. By fully examination, the resulting iPSCs expressed pluripotency-associated stem cell markers, maintained the normal karyotype and proliferative potential for three-germ layer differentiation.