Details

Autor(en) / Beteiligte

• Fuchs, Nina V.
• Schieck, Maximilian
• Neuenkirch, Michaela
• Tondera, Christiane
• Schmitz, Heike
• Wendeburg, Lena
• Steinemann, Doris
• Elpers, Christiane
• Rutsch, Frank
• König, Renate

Titel

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi–Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)

Ist Teil von

• Stem cell research, 2020-03, Vol.43, p.101697-101697, Article 101697

Ort / Verlag

England: Elsevier B.V

Erscheinungsjahr

2020

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Aicardi-Goutières syndrome (AGS) is a hereditary early onset encephalopathy. AGS patients display variable clinical manifestations including intracranial calcification, cerebral atrophy, white matter abnormalities and characteristic leukocytosis as well as a constitutive upregulation of type I IFN production indicative of a type I interferonopathy. Seven genes (SAMHD1, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, IFIH1) have been associated with the AGS phenotype, up to now. Here, we describe the generation of three induced pluripotent stem cell lines from a patient with a deletion of coding exons 14 and 15 of the SAMHD1 gene.