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

Stem Cell Research (Dec 2021)

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

Affiliations

Jiehui Ma: Department of Neurology, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China
Kun Ni: Department of Neurology, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China
Wei Cai: Department of Neurology, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China
Bingying li: Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China
Qiaoqiao Qian: Department of Neurology, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China; Corresponding authors.
Dan Sun: Department of Neurology, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science&Technology, Wuhan, Hubei, China; Corresponding authors.

Journal volume & issue: Vol. 57
p. 102589

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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