RESUMEN

We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.

Asunto(s)

Transportadoras de Casetes de Unión a ATP/genética , Técnicas de Cultivo de Célula/métodos , Genes Recesivos , Células Madre Pluripotentes Inducidas/patología , Degeneración Macular/congénito , Adolescente , Secuencia de Bases , Línea Celular , Niño , Femenino , Humanos , Factor 4 Similar a Kruppel , Degeneración Macular/genética , Enfermedad de Stargardt