Characterization of genomic imprinting defects during mouse iPSC generationKlobučar, Tajda (Avtor) Ogorevc, Jernej (Mentor) Teixeira da Rocha, Simao Jose (Komentor) induced pluripotent stem cellsgenomic imprintingDNA methylationInduced pluripotent stem cells (iPSCs) can be obtained from somatic cells through a dynamic process of reprogramming and represent an important step towards personalized regenerative medicine. Unfortunately, through available reprogramming protocols, iPSCs still acquire several genetic and epigenetic aberrations. A specific group of common epigenetic defects are so-called imprinting errors. Genomic imprinting is an epigenetic phenomenon causing monoallelic expression of some genes in a parent-of-origin-specific manner. This unique expression pattern is controlled by differential DNA methylation at imprinting control regions (ICRs). The preservation of imprinting status is a prerequisite for the safe use of iPSCs in disease modelling and regenerative medicine. While several reports have described abnormal DNA methylation at ICRs, the lack of comprehensive analysis limits the understanding of their source. With the use of a novel high-throughput method for assessing DNA methylation at multiple ICRs (IMPLICON), we obtained an overview of common methylation discrepancies at ICRs in newly generated female and male murine iPSCs. We were able to show that gender of donor cells, as well as culture conditions used for reprogramming, are important factors in the acquisition of genomic imprinting defects in iPSCs.[T. Klobučar]20202020-07-24 07:16:06Magistrsko delo/naloga117760UDK: 602.9:591.81(043.2)VisID: 176026COBISS_ID: 23562755sl