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

Autor: Vanessa Hänchen, Stefanie Kretschmer, Christine Wolf, Kerstin Engel, Shahryar Khattak, Katrin Neumann, Min Ae Lee-Kirsch
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Stem Cell Research, Vol 64, Iss , Pp 102895- (2022)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2022.102895
Popis: 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.
Databáze: Directory of Open Access Journals