{"title":"An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene","authors":"Madhura Milind Nimonkar , Gautham Arunachal , Ananthapadmanabha Kotambail , Ramya Sukrutha , Kenchaiah Raghavendra , Ghati K Chetan , Bhupesh Mehta , Yogananda S. Markandeya","doi":"10.1016/j.scr.2025.103672","DOIUrl":null,"url":null,"abstract":"<div><div>We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a <em>de novo,</em> pathogenic variant of the <em>SCN1A</em> gene, which encodes the Na<sub>V</sub>1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expressed stemness markers and possessed trilineage differentiation potency. The cells presented a normal karyotype and had no mycoplasma contamination. This cell line will be used to study mechanism of epilepsy and develop patient specific therapies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103672"},"PeriodicalIF":0.8000,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506125000224","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a de novo, pathogenic variant of the SCN1A gene, which encodes the NaV1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expressed stemness markers and possessed trilineage differentiation potency. The cells presented a normal karyotype and had no mycoplasma contamination. This cell line will be used to study mechanism of epilepsy and develop patient specific therapies.
期刊介绍：
Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.
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