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

Automated summary

In this study, an iPSC line was successfully established from PBMCs of a five-year-old female patient with EIG15, showing stable expression of pluripotent genes, normal karyotype, and full potential for differentiation into three germ layers.