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