建立无转基因 iPS 细胞系（SDCHi002-A），该细胞系来自一名患有癫痫的 NPRL3 基因突变的年轻患者。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-10-11 DOI:10.1016/j.scr.2024.103574

Song Su , Ying Ren , Hongwei Zhang , Yi Liu , Yong Liu , Zilong Li , Tong Zhang , Fang Fang

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引用次数: 0

摘要

全世界有 6500 万人患有癫痫。在这项研究中，研究人员从一名携带氮核酶调控因子3蛋白（NPRL3）突变的年轻癫痫患者身上分离出外周血单核细胞，并通过临床和基因诊断证实该患者患有癫痫。使用携带 OCT4、SOX2、KLF4、BCL-XL 和 C-MYC 的质粒，通过非整合方法建立了诱导多能干细胞（iPSCs）。建立的 iPSCs 具有典型的多能细胞形态、正常核型和分化为三个生殖层的潜能。我们的方法为探索癫痫的发病机制和治疗提供了一个有用的模型。

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Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.

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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.