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Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2
oleh: Jiehui Ma, Kun Ni, Wei Cai, Bingying li, Qiaoqiao Qian, Dan Sun
Format: | Article |
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Diterbitkan: | Elsevier 2021-12-01 |
Deskripsi
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.