Generation of SCN1B knock out induced pluripotent stem cell (iPSC) line (refractory epilepsy syndrome and Brugada syndrome related cell line)

SCN1B 敲除诱导多能干细胞 (iPSC) 系 (难治性癫痫综合征和布鲁格达综合征相关细胞系) 的生成

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作者:Wei Shan, Guipeng An, Qian Ren, Qun Wang

Abstract

The SCN1B gene, encoding the voltage-gated Na+ channel beta subunit Nav1.1, was founded as the most clinically relevant epilepsy and Brugadasyndrome gene. Variants in SCN1B resulted in genetic epilepsy with febrile seizures plus, severe Dravet Syndrome (DS), Brugadasyndrome, Atrial Arrhythmias, and Long QT-Syndrome. Here, we generated induced pluripotent stem cells (iPSC) from a normal individual by electroporation of peripheral blood mononuclear cells (PBMC), and further generated a SCN1B-knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had normal karyotype, free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.

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