Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations

Stem Cell Res. 2022 Oct:64:102912. doi: 10.1016/j.scr.2022.102912. Epub 2022 Sep 9.

Abstract

Mutations in SAMHD1, encoding SAM and HD domain-containing protein 1, cause Aicardi-Goutières syndrome (AGS) 5, an infancy-onset autoinflammatory disease characterized by neurodegeneration and chronic activation of type I interferon. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts and peripheral blood mononuclear cells from three AGS patients with biallelic SAMHD1 mutations. These cell lines provide a valuable source to study disease mechanisms and to assess therapeutic molecules.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Interferon Type I* / genetics
  • Interferon Type I* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Monomeric GTP-Binding Proteins* / genetics
  • Monomeric GTP-Binding Proteins* / metabolism
  • Mutation / genetics
  • SAM Domain and HD Domain-Containing Protein 1 / genetics

Substances

  • SAM Domain and HD Domain-Containing Protein 1
  • Monomeric GTP-Binding Proteins
  • Interferon Type I

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Aicardi-Goutieres syndrome 5