Stem Cell Research (May 2020)

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

Journal volume & issue
Vol. 45

Abstract

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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.