Establishment of a transgene-free iPS cell line (SDCHi008-A) from a young patient bearing a KCNQ2 mutation and suffering from Epilepsy

Abstract

Epilepsy is a chronic neurological disease which has affected ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a KCNQ2 gene mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.