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Updated: Oct 29, 2025

Establishment of Genome-edited Human Pluripotent Stem Cell Lines: From Targeting to Isolation
Published on: February 2, 2016
Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line
Wei Shan1, Xiaoling Yang2, Qian Ren3
1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China.
Abstract:
The SCN1A gene encodes the voltage-gated Na+ channel alpha subunit Nav1.1 and is the most clinically relevant epilepsy gene. Variants in SCN1A result in a broad phenotypic spectrum of epilepsy syndromes, from mild genetic epilepsy with febrile seizures plus to severe Dravet syndrome (DS). Here, we generated a SCN1A-knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had a normal karyotype, were free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.
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