Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique
Citations Over TimeTop 14% of 2014 papers
Abstract
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.
Related Papers
- → Refining strategies to translate genome editing to the clinic(2017)250 cited
- → In Vivo Genome Editing as a Therapeutic Approach(2018)75 cited
- → Genome editing and the next generation of antiviral therapy(2016)45 cited
- Targeted genome editing using site-specific nucleases : ZFNs, TALENs, and the CRISPR/Cas9 system(2015)
- → Gene editing technologies used to reduce infectious plant diseases(2023)1 cited