Stem Cell Research (Oct 2022)

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

  • Vanessa Hänchen,
  • Stefanie Kretschmer,
  • Christine Wolf,
  • Kerstin Engel,
  • Shahryar Khattak,
  • Katrin Neumann,
  • Min Ae Lee-Kirsch

Journal volume & issue
Vol. 64
p. 102895

Abstract

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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.