从一名携带新型 SCN1A 变异基因的女性癫痫患儿的 PBMCs 中生成诱导多能干细胞系 NIMHi013-A。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-10-05 DOI:10.1016/j.scr.2024.103573

Gautham Arunachal , Madhura Milind Nimonkar , Pavithra Mahadeva , Ramya Sukrutha , Kenchaiah Raghavendra , Ghati K. Chetan , Manjunatha M. Venkataswamy , Bhupesh Mehta , Yogananda S. Markandeya

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引用次数: 0

摘要

iPSC 株系 NIMHi013-A 是由一名耐药性癫痫儿科患者的外周血单核细胞产生的。研究发现，该患者的 SCN1A 基因中存在一个可能致病的错义变体，该变体为杂合型，在患者体内以显性方式遗传。该变异位于电压门控钠离子通道的 Nav1.1 亚基中。iPSCs 是通过仙台病毒重编程产生的。这些 iPSCs 表达多能性标记，呈现正常核型，并能分化成三个胚层。iPSC品系NIMHi013-A可用于体外研究癫痫的发生。

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Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant

The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.1 subunit of the voltage gated sodium ion channel. The iPSCs were generated using Sendai virus-based reprogramming. These iPSCs express pluripotent markers, present a normal karyotype and could differentiate into three germ layers. The iPSC line NIMHi013-A can be used to investigate epileptogenesis in vitro.

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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.