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

Summary

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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Zhang Q, Chen X, Wang M, Li L, Yu C
Journal Stem cell research
Publication Date 2024 Oct;80:103507
PubMed 39079397
DOI 10.1016/j.scr.2024.103507

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