Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, China.
Kaiumph Medical Diagnostics Co, Ltd, China.
Stem Cell Res. 2021 Apr;52:102224. doi: 10.1016/j.scr.2021.102224. Epub 2021 Feb 9.
Early infantile epileptic encephalopathy 26 (EE26) is a form of epileptic encephalopathy, a heterogeneous group of severe childhood-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. A recent study has shown that the KCNB1 gene mutation is associated with EE26; yet, the exact mechanism remains unclear. In this study, we produced an induced pluripotent stem cell line (iPSC) with a heterozygous variant of the KCNB1 gene (c.990G > T, p.Glu330Asp). Induced iPSCs were generated from peripheral blood mononuclear cells (PBMCs) obtained from a female child aged 6 with KCNB1 gene c. 990G > T and p.Glu330Asp heterozygous mutation.
早发性婴儿癫痫性脑病 26 型（EE26）是癫痫性脑病的一种形式，癫痫性脑病是一组异质性的严重儿童起病癫痫，其特征为难治性癫痫发作、神经发育障碍和预后不良。最近的一项研究表明，KCNB1 基因突变与 EE26 有关；然而，确切的机制尚不清楚。在这项研究中，我们构建了一个 KCNB1 基因杂合变异（c.990G>T，p.Glu330Asp）的诱导多能干细胞系（iPSC）。诱导的 iPSC 是从一名 6 岁女性的外周血单核细胞（PBMC）中产生的，该女性患有 KCNB1 基因 c.990G>T 和 p.Glu330Asp 杂合突变。
