Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique

Human induced pluripotent stem cells (iPSC) can be used to understand the pathological mechanisms of human disease. These cells are a promising source for cell-replacement therapy. However, such studies require genetically defined conditions. Such genetic manipulations can be performed using the nov...

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Main Authors:	Chen, Wanjuan, Liu, Jingxin, Zhang, Longmei, Xu, Huijuan, Guo, Xiaogang, Deng, Sihao, Liu, Lipeng, Yu, Daiguan, Chen, Yonglong, Li, Zhiyuan
Format:	Online
Language:	English
Published:	Nature Publishing Group 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066246/

id	pubmed-4066246
recordtype	oai_dc
spelling	pubmed-40662462014-06-23 Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique Chen, Wanjuan Liu, Jingxin Zhang, Longmei Xu, Huijuan Guo, Xiaogang Deng, Sihao Liu, Lipeng Yu, Daiguan Chen, Yonglong Li, Zhiyuan Article Human induced pluripotent stem cells (iPSC) can be used to understand the pathological mechanisms of human disease. These cells are a promising source for cell-replacement therapy. However, such studies require genetically defined conditions. Such genetic manipulations can be performed using the novel Transcription Activator-Like Effector Nucleases (TALENs), which generate site-specific double-strand DNA breaks (DSBs) with high efficiency and precision. Combining the TALEN and iPSC methods, we developed two iPS cell lines by generating the point mutation A5768G in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1 α subunit. The engineered iPSC maintained pluripotency and successfully differentiated into neurons with normal functional characteristics. The two cell lines differ exclusively at the epilepsy-susceptibility variant. The ability to robustly introduce disease-causing point mutations in normal hiPS cell lines can be used to generate a human cell model for studying epileptic mechanisms and for drug screening. Nature Publishing Group 2014-06-23 /pmc/articles/PMC4066246/ /pubmed/24953032 http://dx.doi.org/10.1038/srep05404 Text en Copyright © 2014, Macmillan Publishers Limited. All rights reserved http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder in order to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Chen, Wanjuan Liu, Jingxin Zhang, Longmei Xu, Huijuan Guo, Xiaogang Deng, Sihao Liu, Lipeng Yu, Daiguan Chen, Yonglong Li, Zhiyuan
spellingShingle	Chen, Wanjuan Liu, Jingxin Zhang, Longmei Xu, Huijuan Guo, Xiaogang Deng, Sihao Liu, Lipeng Yu, Daiguan Chen, Yonglong Li, Zhiyuan Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
author_facet	Chen, Wanjuan Liu, Jingxin Zhang, Longmei Xu, Huijuan Guo, Xiaogang Deng, Sihao Liu, Lipeng Yu, Daiguan Chen, Yonglong Li, Zhiyuan
author_sort	Chen, Wanjuan
title	Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
title_short	Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
title_full	Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
title_fullStr	Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
title_full_unstemmed	Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
title_sort	generation of the scn1a epilepsy mutation in hips cells using the talen technique
description	Human induced pluripotent stem cells (iPSC) can be used to understand the pathological mechanisms of human disease. These cells are a promising source for cell-replacement therapy. However, such studies require genetically defined conditions. Such genetic manipulations can be performed using the novel Transcription Activator-Like Effector Nucleases (TALENs), which generate site-specific double-strand DNA breaks (DSBs) with high efficiency and precision. Combining the TALEN and iPSC methods, we developed two iPS cell lines by generating the point mutation A5768G in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1 α subunit. The engineered iPSC maintained pluripotency and successfully differentiated into neurons with normal functional characteristics. The two cell lines differ exclusively at the epilepsy-susceptibility variant. The ability to robustly introduce disease-causing point mutations in normal hiPS cell lines can be used to generate a human cell model for studying epileptic mechanisms and for drug screening.
publisher	Nature Publishing Group
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066246/
_version_	1612104590087421952

Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique

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