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.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:90634 |
| 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, 102912, 10.1016/j.scr.2022.102912, 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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