Establishment and characterization of a human induced pluripotent stem cell line from a child with epilepsy

Epilepsy is a chronic neurological disorder characterized by recurrent seizures. The condition can develop at any age, with particularly high prevalence in infancy and old age. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) obtained from a 5-year-old girl diagnosed with epilepsy carrying a heterozygous PCDH19 mutation (c.380C > T; p.Pro127Leu). The established iPSC line exhibited a normal karyotype, expressed key pluripotency markers, and was confirmed to be free of episomal reprogramming vector integration. Moreover, the iPSCs demonstrated robust in vitro differentiation potential into cell types representative of all three germ layers.