RESUMEN

An induced pluripotent stem cell (hiPSC) line (MPIi008-A) was generated from fibroblasts of a 1-year-old male patient with Denys-Drash syndrome using lentiviral delivery of reprogramming factors OCT4, SOX2, KLF4 and c-MYC. The MPIi008-A iPSC line exhibited typical iPSC morphology and normal karyotype, expressed pluripotent stem cell markers, and showed developmental potential to differentiate into derivatives of all three germ layers in vivo. The hiPSC line harbours a heterozygous missense mutation (R394L) in exon 9 of the WT1 gene.

Asunto(s)

Síndrome de Denys-Drash , Células Madre Pluripotentes Inducidas , Células Madre Pluripotentes , Diferenciación Celular , Síndrome de Denys-Drash/metabolismo , Fibroblastos/metabolismo , Heterocigoto , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Lactante , Masculino , Mutación