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.

中文翻译：

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来自Aicardi-Goutières综合征（AGS）患者的三种诱导性多能细胞系（iPSC）的产生，这些患者的基因座中含有无菌α基序和含有蛋白1（HDHD1）的HD域。

心律失常综合征（AGS）是一种遗传性早发性脑病。AGS患者显示出各种临床表现，包括颅内钙化，脑萎缩，白质异常和特征性白细胞增多，以及指示I型干扰素的I型IFN产生的组成型上调。迄今为止，七个基因（SAMHD1，TREX1，RNASEH2B，RNASEH2C，RNASEH2A，ADAR1，IFIH1）已与AGS表型相关。在这里，我们描述了从SAMHD1基因的编码外显子14和15缺失的患者中产生三种诱导的多能干细胞系。