- 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.
|Journal||Stem cell research|
|Early online date||9 Sept 2022|
|Publication status||Published - Oct 2022|
Research priority areas of TU Dresden
DFG Classification of Subject Areas according to Review Boards
- 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