从一位患有癫痫的年轻 ATP1A2 突变携带者患者中建立一个无转基因 iPS 细胞系（SDCHi007-A）。
Establishment of a transgene-free iPS cell line (SDCHi007-A) from a young patient bearing a ATP1A2 mutation and suffering from Epilepsy.
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.
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 Sep;79:103490. doi: 10.1016/j.scr.2024.103490. Epub 2024 Jul 9.
Epilepsy is a chronic neurological disease. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient diagnosed as epilepsy caused by ATP1A2 gene mutation. Induced pluripotent stem cells (iPSCs) were developed using non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSC line (SDCHi007-A) displayed pluripotent cell morphology, high expression levels of pluripotency markers, differentiation potential in vitro, normal karyotype, and remaining the original ATP1A2 gene mutation.
癫痫是一种慢性神经系统疾病。在这里，我们描述了从一名被诊断为 ATP1A2 基因突变引起的癫痫患者中生成诱导多能干细胞（iPSC）的过程。使用含有 OCT4、SOX2、KLF4、BCL-XL 和 C-MYC 的非整合性附加体载体来开发诱导多能干细胞（iPSC）。所建立的 iPSC 系（SDCHi007-A）显示出多能细胞形态、高水平的多能性标志物表达、体外分化潜能、正常核型，并保留了原始的 ATP1A2 基因突变。
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