Fuchs Nina V, Schieck Maximilian, Neuenkirch Michaela, Tondera Christiane, Schmitz Heike, Wendeburg Lena, Steinemann Doris, Elpers Christiane, Rutsch Frank, König Renate
Host-Pathogen Interactions, Paul-Ehrlich-Institut, 63225 Langen, Germany.
Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Stem Cell Res. 2020 Mar;43:101697. doi: 10.1016/j.scr.2019.101697. Epub 2020 Jan 9.
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.
艾卡迪-古铁雷斯综合征（AGS）是一种遗传性早发性脑病。AGS患者表现出多种临床表现，包括颅内钙化、脑萎缩、白质异常和特征性白细胞增多，以及I型干扰素产生的持续性上调，提示I型干扰素病。截至目前，已有七个基因（SAMHD1、TREX1、RNASEH2B、RNASEH2C、RNASEH2A、ADAR1、IFI1）与AGS表型相关。在此，我们描述了从一名SAMHD1基因编码外显子14和15缺失的患者中生成的三株诱导多能干细胞系。
