Generation of an induced pluripotent stem cell line ZZUNEUi019-A from a five-year-old Chinese girl with Susceptibility to idiopathic generalized epilepsy-15
2021
Abstract 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.
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