Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Hänchen V, Kretschmer S, Wolf C, Engel K, Khattak S, Neumann K, Lee-Kirsch MA |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102912 |
| PubMed | 36115319 |
| DOI | 10.1016/j.scr.2022.102912 |