Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

Stem Cell Res. 2022 Oct:64:102895. doi: 10.1016/j.scr.2022.102895. Epub 2022 Aug 19.

Abstract

Mutations in TREX1, encoding three prime repair exonuclease 1, cause Aicardi-Goutières syndrome (AGS) 1, an autoinflammatory disease characterized by neurodegeneration and constitutive activation of the antiviral cytokine type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts from two AGS patients with biallelic TREX1 mutations. These cell lines offer a unique resource to investigate disease processes in a cell-type specific manner.

Publication types

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

MeSH terms

  • Antiviral Agents
  • Cytokines
  • Exodeoxyribonucleases / genetics
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Interferon Type I* / genetics
  • Mutation / genetics
  • Phosphoproteins / genetics
  • Phosphoproteins / metabolism

Substances

  • three prime repair exonuclease 1
  • Exodeoxyribonucleases
  • Phosphoproteins
  • Interferon Type I
  • Cytokines
  • Antiviral Agents

Supplementary concepts

  • Aicardi-Goutieres syndrome