Epilepsy affects ∼ 65 million people worldwide. Status epilepticus can lead to life-threatening if untreated. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 2 Protein (NPRL2) 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.

中文翻译：

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从携带 NPRL2 突变并患有癫痫的年轻患者中建立无转基因 iPS 细胞系 (SDCHi003-A)

癫痫症影响着全世界约 6500 万人。如果不治疗，癫痫持续状态可能会危及生命。在这项研究中，从一名携带氮渗透酶调节因子样 2 蛋白 (NPRL2) 突变并经临床和基因诊断证实患有癫痫的年轻患者中分离出外周血单核细胞。使用携带 OCT4、SOX2、KLF4、BCL-XL 和 C-MYC 的质粒通过非整合方法建立诱导多能干细胞 (iPSC)。建立的 iPSC 具有典型的多能细胞形态、正常核型和分化成三个胚层的潜力。我们的方法为探索癫痫的发病机制和治疗提供了一个有用的模型。