Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy

Huifang Zhao; Shuai Li; Lang He; Xiaobo Han; Hualin Huang; Feng Tang; Zuoxian Lin; Sihao Deng; Chao Tian; Rongqi Huang; Zhiyuan Li

doi:10.1016/j.scr.2020.101785

Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy

Stem Cell Res. 2020 May:45:101785. doi: 10.1016/j.scr.2020.101785. Epub 2020 Apr 20.

Authors

Huifang Zhao¹, Shuai Li², Lang He³, Xiaobo Han², Hualin Huang², Feng Tang², Zuoxian Lin⁴, Sihao Deng⁵, Chao Tian⁴, Rongqi Huang², Zhiyuan Li⁶

Affiliations

¹ School of Life Sciences, University of Science and Technology of China, Hefei, China; CAS Key Laboratory of Regenerative Biology, Guangzhou Institutes of Biomedicine and Health. and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China; Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510005, China. Electronic address: [email protected].
² CAS Key Laboratory of Regenerative Biology, Guangzhou Institutes of Biomedicine and Health. and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China; University of Chinese Academy of Sciences, Beijing 100049, China; Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510005, China.
³ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
⁴ CAS Key Laboratory of Regenerative Biology, Guangzhou Institutes of Biomedicine and Health. and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China; Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510005, China.
⁵ Department of Anatomy and Neurobiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China.
⁶ School of Life Sciences, University of Science and Technology of China, Hefei, China; CAS Key Laboratory of Regenerative Biology, Guangzhou Institutes of Biomedicine and Health. and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China; GZMU-GIBH Joint School of Life Sciences, Guangzhou Medical University, Guangdong, China; Department of Anatomy and Neurobiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China; University of Chinese Academy of Sciences, Beijing 100049, China; Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510005, China. Electronic address: [email protected].

PMID: 32335389
DOI: 10.1016/j.scr.2020.101785

Abstract

Epilepsy is a neurological disorder, characterized by recurrent (two or more) epileptic seizures resulting from excessive and abnormal cortical neural activity.Fibroblasts were collected from a 10-year-old male with antecedent febrile seizures (PEFS+) and carrying a heterozygous A > G mutation of Nav1.1 α subunit gene. The induced USTCi001-A retained the mutation, expressed pluripotent markers, showed normal karyotype, and displayed in vitro differentiation potential toward cells of the three embryonic germ layers.

Publication types

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

MeSH terms

Cell Differentiation
Child
Epilepsy*
Fibroblasts
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Male
Mutation
Skin