从一名患有癫痫的携带 KCNQ2 突变的年轻患者中建立一个无转基因 iPS 细胞系（SDCHi008-A）。
Establishment of a transgene-free iPS cell line (SDCHi008-A) from a young patient bearing a KCNQ2 mutation and suffering from Epilepsy.
机构信息
Neurology Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Neurology Department, Jinan Children's Hospital, Jinan, Shandong 250022, China; Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children's Hospital, Jinan, Shandong 250022, China.
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Epilepsy Center, Jinan Children's Hospital, Jinan, Shandong 250022, China.
出版信息
Stem Cell Res. 2024 Oct;80:103507. doi: 10.1016/j.scr.2024.103507. Epub 2024 Jul 24.
Epilepsy is a chronic neurological disease which has affected ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a KCNQ2 gene 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.
癫痫是一种慢性神经系统疾病，影响全球约 6500 万人。在这项研究中，从一名患有 KCNQ2 基因突变的癫痫年轻患者中分离出外周血单核细胞。通过非整合方法，使用携带 OCT4、SOX2、KLF4、BCL-XL 和 C-MYC 的质粒建立诱导多能干细胞 (iPSC)。建立的 iPSC 呈现典型的多能细胞形态、正常核型，并具有向三个胚层分化的潜能。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。
Zotero 插件