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Cell Stem Cell. 2013 Jun 6;12(6):656-68. doi: 10.1016/j.stem.2013.05.016.

Modeling human disease with pluripotent stem cells: from genome association to function.

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  • 1The Howard Hughes Medical Institute, the Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, and Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.


Mechanistic insights into human disease may enable the development of treatments that are effective in broad patient populations. The confluence of gene-editing technologies, induced pluripotent stem cells, and genome-wide association as well as DNA sequencing studies is enabling new approaches for illuminating the molecular basis of human disease. We discuss the opportunities and challenges of combining these technologies and provide a workflow for interrogating the contribution of disease-associated candidate genetic variants to disease-relevant phenotypes. Finally, we discuss the potential utility of human pluripotent stem cells for placing disease-associated genetic variants into molecular pathways.

Copyright © 2013 Elsevier Inc. All rights reserved.

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