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Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations

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.

Identiferoai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:90634
Date16 May 2024
CreatorsHänchen, Vanessa, Kretschmer, Stefanie, Wolf, Christine, Engel, Kerstin, Khattak, Shahryar, Neumann, Katrin, Lee-Kirsch, Min Ae
PublisherElsevier
Source SetsHochschulschriftenserver (HSSS) der SLUB Dresden
LanguageEnglish
Detected LanguageEnglish
Typeinfo:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text
Rightsinfo:eu-repo/semantics/openAccess
Relation1876-7753, 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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