Journal article

Impact of regulatory variation across human iPSCs and differentiated cells

Nicholas Banovich, Yang Li, Anil Raj, Michelle Ward, Peyton Greenside, Diego Calderon, Po Yuan Tung, Jonathan Burnett, Marsha Myrthil, Samantha Thomas, Courtney Burrows, Irene Gallego Romero, Bryan Pavlovic, Anshul Kundaje, Jonathan Pritchard, Yoav Gilad

Published : 2016

Abstract

Induced pluripotent stem cells (iPSCs) are an essential tool for studying cellular differentiation and cell types that are otherwise difficult to access. We investigated the use of iPSCs and iPSC-derived cells to study the impact of genetic variation across different cell types and as models for studies of complex disease. We established a panel of iPSCs from 58 well-studied Yoruba lymphoblastoid cell lines (LCLs); 14 of these lines were further differentiated into cardiomyocytes. We characterized regulatory variation across individuals and cell types by measuring gene expression, chromatin accessibility and DNA methylation. Regulatory variation between individuals is lower in iPSCs than in ..

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