一种诱导多能干细胞系NIMHi014-A，由一名癫痫患者的pbmc产生，其中含有SCN1A基因的变体

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-04 DOI:10.1016/j.scr.2025.103672

Madhura Milind Nimonkar , Gautham Arunachal , Ananthapadmanabha Kotambail , Ramya Sukrutha , Kenchaiah Raghavendra , Ghati K Chetan , Bhupesh Mehta , Yogananda S. Markandeya

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引用次数: 0

摘要

我们报道了iPSC系NIMHi014-A，产生于一个癫痫女孩的pbmc。先证者携带一种全新的致病SCN1A基因变体，该基因编码电压门控钠通道的NaV1.1亚型。细胞系NIMHi014-A表现出典型的ipsc样形态，表达干性标记，具有三龄分化能力。细胞核型正常，无支原体污染。该细胞系将用于研究癫痫的机制和开发患者特异性治疗方法。

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An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene

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 Na_V1.1 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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

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.