Ma Jiehui, Ni Kun, Cai Wei, Li Bingying, Qian Qiaoqiao, Sun Dan
Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China.
Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China.
Stem Cell Res. 2021 Dec;57:102589. doi: 10.1016/j.scr.2021.102589. Epub 2021 Oct 30.
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.
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