从一名携带NPRL3突变且患有癫痫的年轻患者身上建立无转基因诱导多能干细胞系（SDCHi002-A）。
Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy.
作者信息
Su Song, Ren Ying, Zhang Hongwei, Liu Yi, Liu Yong, Li Zilong, Zhang Tong, Fang Fang
机构信息
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children's Hospital, Jinan, Shandong 250022, China.
Department of Neurology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing 100045, China.
出版信息
Stem Cell Res. 2024 Dec;81:103574. doi: 10.1016/j.scr.2024.103574. Epub 2024 Oct 11.
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.
癫痫影响着全球约6500万人。在本研究中，从一名携带氮肽酶调节因子样3蛋白（NPRL3）突变且经临床和基因诊断确诊患有癫痫的年轻患者中分离出外周血单个核细胞。通过非整合方法，利用携带OCT4、SOX2、KLF4、BCL-XL和C-MYC的质粒建立了诱导多能干细胞（iPSC）。所建立的iPSC呈现出典型的多能细胞形态、正常的核型以及分化为三个胚层的潜力。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。
Zotero 插件