Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations
Summary
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. 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;64:102895 |
| PubMed | 36027857 |
| DOI | 10.1016/j.scr.2022.102895 |