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Updated: Jan 13, 2026

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Establecimiento y caracterización de una línea de células madre pluripotentes inducidas humanas a partir de un niño

Wei Jiang¹, Chuanmei Chen², Hongwei Zhang³

¹Department of Pediatric Neurology, Binzhou Medical University Hospital, Binzhou, China; Binzhou Medical University, Binzhou, China.

Stem cell research

|January 7, 2026

Abstract:

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.

Palabras clave:

epilepsia células madre pluripotentes inducidas PCDH19 modelado de enfermedades neurociencia biología de células madre genética

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