De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel K_v1.2, which is vital in regulating neuronal membrane potential and repolarization. In this study, we generated three iPSC lines with non-integrating Sendai viral vectors from dermal fibroblasts of an 11-year old female patient harboring the KCNA2 c.869T>G (p.Leu290Arg) pathogenic variant. The iPSC lines were validated with standardized procedures including the targeted mutation, free of transgene integration, SNP karyotyping, pluripotent gene expression, and differentiation capacity into three embryonic germ layers.

KCNA2的从头致病性变异与引起一系列人类神经系统疾病，特别是发育性和癫痫性脑病有关。KCNA2编码电压门控延迟整流钾通道K _v 1.2，这对调节神经元膜电位和复极化至关重要。在这项研究中，我们从一名携带KCNA2的11岁女性患者的皮肤成纤维细胞中生成了三株非整合仙台病毒载体的iPSC系c.869T> G（p.Leu290Arg）致病变异。iPSC品系已通过标准化程序进行了验证，包括靶向突变，无转基因整合，SNP核型分型，多能基因表达以及向三个胚芽层的分化能力。