Chen, Wanjuan
Liu, Jingxin
Zhang, Longmei
Xu, Huijuan
Guo, Xiaogang
Deng, Sihao
Liu, Lipeng
Yu, Daiguan
Chen, Yonglong
Li, Zhiyuan
Article History
Received: 26 March 2014
Accepted: 3 June 2014
First Online: 23 June 2014
Change Date: 30 June 2015
Change Type: Update
Change Details: A correction has been published and is appended to both the HTML and PDF versions of this paper. The error has not been fixed in the paper.
Change Date: 30 June 2015
Change Type: Erratum
Change Details: 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.
Competing interests
: The authors declare no competing financial interests.