Dong Wei, Shi Dandan, Zhang Lihua, Huang Mingwei, Luo Qiang
Department of pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Department of pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Stem Cell Res. 2021 Mar;51:102177. doi: 10.1016/j.scr.2021.102177. Epub 2021 Jan 15.
Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade, caused by heterozygous mutations in the RORB gene encoding the retinoid-related orphan receptor β. We established an induced pluripotent stem cell (iPSC) line from PBMCs collected from a five-year-old female patient with EIG15, via reprogramming with OCT3/4, SOX2, KLF4, and c-MYC. Upon careful examination, the iPSCs stably expressed pluripotent genes, maintained a normal karyotype, and had full potential for three-germ layer differentiation.
特发性全身性癫痫-15(EIG15)易感性是一种常染色体显性癫痫疾病,其特征为在第一个十年中出现多种类型的癫痫发作,由编码视黄酸相关孤儿受体β的RORB基因中的杂合突变引起。我们通过用OCT3/4、SOX2、KLF4和c-MYC进行重编程,从一名患有EIG15的五岁女性患者采集的外周血单核细胞(PBMC)中建立了诱导多能干细胞(iPSC)系。经过仔细检查,这些iPSC稳定表达多能基因,维持正常核型,并具有三胚层分化的全部潜能。