Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

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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.


Original languageEnglish
Article number102895
JournalStem cell research
Early online date19 Aug 2022
Publication statusPublished - 1 Oct 2022

External IDs

unpaywall 10.1016/j.scr.2022.102895
Mendeley c4b6b2a2-972e-3a03-a592-86801a4384f7
Scopus 85136565973


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