诱导多能干细胞系NIMHi012-A的鉴定来源于一名SCN1A基因致病性变异的癫痫患者的pbmc

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-19 DOI:10.1016/j.scr.2025.103809

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

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引用次数: 0

摘要

我们报告了iPSC细胞系NIMHi012-A的成功表征，该细胞系产生于一例全面性癫痫伴发热性癫痫发作（GEFS+）患者的pmcs。无支原体细胞表达多能性标记物，具有三期分化潜能，核型正常。该细胞系将作为研究疾病机制和开发新的患者特异性治疗策略的平台。

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Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene

We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. This cell line will serve as a platform to investigate the disease mechanism and develop novel patient-specific therapeutic strategies.

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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.