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Investigating monogenic and complex diseases with pluripotent stem cells.

Nature reviews. Genetics - 1 Apr 2011

Zhu Hao, Lensch M William, Cahan Patrick, Daley George Q

Abstract excerpt

Human genetic studies have revealed the molecular basis of countless monogenic diseases but have been less successful in associating phenotype to genotype in complex multigenic conditions. Pluripotent stem cells (PSCs), which can differentiate into any cell type, offer promise for defining the functional effects of genetic variation. Here, we recount the advantages and practical limitations of coupling PSCs to...

Topics

Animals
Cell Differentiation
Disease
Embryonic Stem Cells
Epigenomics
Genome
Genotype
Humans
Mice
Phenotype
Pluripotent Stem Cells

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PMID: 21386866
DOI: 10.1038/nrg2951

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