EGAS00001002329-sc-2019-04-03T13:52:30Z - samples

Mutational signatures have been shown to be attributable to specific genetic contexts, such as mutations in DNA repair genes. DNMT3A is a DNA methyltransferase that helps maintain the DNA methylation pattern in a site-specific manner and may participate in DNA repair or the stress response. We have identified an adult individual who is a germline mosaic for a DNMT3A mutation. We have obtained clonal lymphoblastoid cells (LCLs) from the subject representing both WT and mutant lines grown in the same individual for >50 years. These clones represent a unique opportunity to examine the mutational impact of the DNMT3A mutation in a well-controlled setting. Our goal is to perform WGS on whole blood, representing the pool, as well as several WT and several mutant clones, in order to investigate the contribution of DNMT3A to mutation rates and signatures. .
This dataset contains all the data available for this study on 2019-04-03.EGA dataset EGAD00001004889

突变特征（mutational signatures）已被证实与特定遗传背景相关，例如DNA修复基因的突变。DNMT3A是一种DNA甲基转移酶，能够以位点特异性方式维持DNA甲基化模式，并可能参与DNA修复或应激反应。我们已鉴定出一名携带DNMT3A突变的生殖系嵌合成人个体。从该受试者体内分离得到了克隆型淋巴母细胞样细胞（lymphoblastoid cells, LCLs），涵盖野生型（wild type, WT）与突变型两种细胞系，二者在同一宿主体内已存活超过50年。这些克隆为在严格可控的实验环境下研究DNMT3A突变的突变效应提供了独特契机。本研究的目标是对代表整体细胞池的全血样本，以及多株野生型与突变型克隆开展全基因组测序（whole genome sequencing, WGS），以探究DNMT3A对突变率与突变特征的贡献。
本数据集包含2019年4月3日时本研究可获取的全部数据，属于EGA数据集EGAD00001004889。