Biallelic TET2 mutation sensitizes to 5’-azacitidine in acute myeloid leukemia. Stolzel et al. JCI Insight. [Illumina Infinium]

To investigate the impact of TET2 loss on global genomic methylation in HEL acute myeloid leukaemia (AML) cells. HEL AML cells, which have a monoallelic TET2 mutation, were targeted by CRISPR to inactivate the remaining TET2 allele, generating isogenic cell clones with either monoallelic or biallelic TET2 mutation. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 27,000 CpGs in 3 indepenent HEL AML cell clones with monoallelic TET2 mutation and 3 independent cell clones with biallelic TET2 mutation.

本研究旨在探究TET2缺失对HEL急性髓系白血病（acute myeloid leukaemia, AML）细胞的全基因组甲基化水平的影响。本研究以携带单等位TET2突变的HEL AML细胞为材料，通过CRISPR靶向灭活其剩余的TET2等位基因，成功构建了分别携带单等位或双等位TET2突变的同基因细胞克隆。研究采用Illumina Infinium 450K人类DNA甲基化芯片，对3株独立的携带单等位TET2突变的HEL AML细胞克隆，以及3株独立的携带双等位TET2突变的HEL AML细胞克隆，开展了覆盖约27000个CpG位点的DNA甲基化谱检测。