RESUMEN

Macular corneal dystrophy (MCD) an autosomal recessive disorder leading to severe visual impairment is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. Here, we describe generation of a iPSC line from peripheral blood mononuclear cells (PBMCs) from a 38 year old MCD patient harboring a homozygous mutation, p.V172L in the CHST6 gene. The iPSC line GLNNFi001-A was generated using an integration-free Sendai virus containing (KLF4, c-MYC, OCT4 and SOX2).

Asunto(s)

Distrofias Hereditarias de la Córnea , Células Madre Pluripotentes Inducidas , Adulto , Distrofias Hereditarias de la Córnea/genética , Homocigoto , Humanos , Leucocitos Mononucleares , Mutación/genética