Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene. Academic Article

abstract

• Dravet syndrome is a neurological disorder characterized by treatment-resistant polymorphic seizures, primarily caused by loss-of-function in the SCN1A gene. To develop an in vitro model of this disease, in a previously study we generated an induced pluripotent stem cell line from a 10-year-old boy carrying the NM_001165963.1:c.5768A to G (Q1923R) mutation in SCN1A. Using TALEN-mediated genome editing, we have now generated an isogenic control line in which the disease-causing mutation found in the epilepsy patient iPSCs was corrected, in order to eliminate the interference of different genetic backgrounds in future analyses.

authors

• Tian, Chao

published proceedings

• Stem Cell Res

author list (cited authors)

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

citation count

• 5

complete list of authors

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

publication date

• July 2020

publisher

• Elsevier  Publisher

published in

• Stem Cell Research  Journal

keywords

• Child
• Dravet Syndrome
• Epilepsies, Myoclonic
• Epilepsy
• Humans
• Induced Pluripotent Stem Cells
• Ipsc
• Male
• Nav1.1 Voltage-gated Sodium Channel
• Talen
• Transcription Activator-like Effector Nucleases

PubMed Central ID

• 32544858

Digital Object Identifier (DOI)

• 10.1016/j.scr.2020.101864

start page

• 101864

end page

• 101864

volume

• 46

URL

• http://dx.doi.org/10.1016/j.scr.2020.101864