Generation Of An Induced Pluripotent Stem Cell Line Zzuneui019-A From A Five-Year-Old Chinese Girl With Susceptibility To Idiopathic Generalized Epilepsy-15

Wei Dong,Dandan Shi, Lihua Zhang,Mingwei Huang, Qiang Luo

STEM CELL RESEARCH(2021)

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摘要
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 beta. 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.
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five-year-old
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