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

Research output: Contribution to journalCase reportContributedpeer-review


  • Royal College of Surgeons in Ireland


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.


Original languageEnglish
Article number102912
JournalStem cell research
Early online date9 Sept 2022
Publication statusPublished - Oct 2022

External IDs

Scopus 85138035955
WOS 000860492600009
unpaywall 10.1016/j.scr.2022.102912
Mendeley 7ee911c1-b3bd-3c27-bd66-3d0630426280


DFG Classification of Subject Areas according to Review Boards

ASJC Scopus subject areas


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