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

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 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.

authors

• Tian, Chao

published proceedings

• Stem Cell Res

author list (cited authors)

• Zhao, H., Li, S., He, L., Han, X., Huang, H., Tang, F., ... Li, Z.

citation count

• 7

complete list of authors

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

publication date

• May 2020

publisher

• Elsevier  Publisher

published in

• Stem Cell Research  Journal

keywords

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

PubMed Central ID

• 32335389

Digital Object Identifier (DOI)

• 10.1016/j.scr.2020.101785

start page

• 101785

end page

• 101785

volume

• 45

URL

• http://dx.doi.org/10.1016/j.scr.2020.101785