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.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:90635 |
| Date | 16 May 2024 |
| Creators | Hänchen, Vanessa, Kretschmer, Stefanie, Wolf, Christine, Engel, Kerstin, Khattak, Shahryar, Neumann, Katrin, Lee-Kirsch, Min Ae |
| Publisher | Elsevier |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 1876-7753, 102895, 10.1016/j.scr.2022.102895, info:eu-repo/grantAgreement/Deutsche Forschungsgemeinschaft/KFO 249: Defekte des angeborenen Immunsystems bei autoinflammatorischen und autoimmunologischen Erkrankungen/160548243//Aicardi-Goutières Syndrom assoziierte Genprodukte als potentielle Sensoren bzw. antivirale Effektoren gegen exogene Viren, info:eu-repo/grantAgreement/Deutsche Forschungsgemeinschaft/TRR 237: Nukleinsäure-Immunität/369799452//Phänotypische, genetische und transkriptionelle Charakterisierung von Typ I - Interferonopathien – ein systembiologischer Ansatz/B21 |
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