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Article

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

Stem cell research - 1 Oct 2022

Hänchen Vanessa, Kretschmer Stefanie, Wolf Christine, Engel Kerstin, Khattak Shahryar, Neumann Katrin, Lee-Kirsch Min Ae

Abstract excerpt

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....

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PMID: 36027857
DOI: 10.1016/j.scr.2022.102895

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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