Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Guo Y, Wang J, Wang Z, Lou Y, Chen W, Sheng M, Wang Y, Zhang B, Gao L, Feng J
Journal Stem cell research
Publication Date 2021 Apr;52:102224
PubMed 33607466
DOI 10.1016/j.scr.2021.102224

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