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Updated: Jan 13, 2026

Author Spotlight: Advancing Genetic Epilepsy Studies with Multi-Electrode Array-Based Long-Term Electrophysiological Monitoring of Human Brain Assembloids

Author Spotlight: Advancing Genetic Epilepsy Studies with Multi-Electrode Array-Based Long-Term Electrophysiological Monitoring of Human Brain Assembloids

Published on: September 27, 2024

てんかん患者由来のヒトiPSC（人工多能性幹細胞）樹立と特性解析

Wei Jiang¹, Chuanmei Chen², Hongwei Zhang³

¹Department of Pediatric Neurology, Binzhou Medical University Hospital, Binzhou, China; Binzhou Medical University, Binzhou, China.

Stem cell research

|January 7, 2026

Abstract:

Epilepsy is a chronic neurological disorder characterized by recurrent seizures. The condition can develop at any age, with particularly high prevalence in infancy and old age. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) obtained from a 5-year-old girl diagnosed with epilepsy carrying a heterozygous PCDH19 mutation (c.380C > T; p.Pro127Leu). The established iPSC line exhibited a normal karyotype, expressed key pluripotency markers, and was confirmed to be free of episomal reprogramming vector integration. Moreover, the iPSCs demonstrated robust in vitro differentiation potential into cell types representative of all three germ layers.

キーワード:

てんかん PCDH19 ヒトiPSC 疾患モデリング幹細胞生物学神経科学遺伝学

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