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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhao H, Li S, He L, Han X, Huang H, Tang F, Lin Z, Deng S, Tian C, Huang R, Li Z
Journal Stem cell research
Publication Date 2020 May;45:101785
PubMed 32335389
DOI 10.1016/j.scr.2020.101785

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