Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis

Stem Cell Res. 2020 Mar:43:101713. doi: 10.1016/j.scr.2020.101713. Epub 2020 Jan 17.

Abstract

Chronic mucocutaneous candidiasis (CMC) is a disease that is characterized by susceptibility to chronic or recurrent infections with Candida spp. due to mutations affecting mainly the IL-17 signaling of T-Cells. The most common etiologies of CMC are gain-of-function (GOF) mutations in the STAT1 gene. In this paper we report the generation of a hiPSC line from a patient suffering from CMC due to a heterozygous GOF STAT1 p.R274Q mutation which can be used for disease modeling purposes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Animals
  • Candidiasis, Chronic Mucocutaneous / genetics*
  • Gain of Function Mutation / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Male
  • STAT1 Transcription Factor / genetics*

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human