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Arterioscler Thromb Vasc Biol. 2017 Nov;37(11):1994-1999. doi: 10.1161/ATVBAHA.117.309199. Epub 2017 Aug 17.

Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells.

Author information

1
From the Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston (B.P., S.A.D.); and Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, Academic Center for Education, Culture and Research, Tehran, Iran (B.P.).
2
From the Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston (B.P., S.A.D.); and Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, Academic Center for Education, Culture and Research, Tehran, Iran (B.P.). duncanst@musc.edu.

Abstract

Inborn errors of hepatic metabolism are because of deficiencies commonly within a single enzyme as a consequence of heritable mutations in the genome. Individually such diseases are rare, but collectively they are common. Advances in genome-wide association studies and DNA sequencing have helped researchers identify the underlying genetic basis of such diseases. Unfortunately, cellular and animal models that accurately recapitulate these inborn errors of hepatic metabolism in the laboratory have been lacking. Recently, investigators have exploited molecular techniques to generate induced pluripotent stem cells from patients' somatic cells. Induced pluripotent stem cells can differentiate into a wide variety of cell types, including hepatocytes, thereby offering an innovative approach to unravel the mechanisms underlying inborn errors of hepatic metabolism. Moreover, such cell models could potentially provide a platform for the discovery of therapeutics. In this mini-review, we present a brief overview of the state-of-the-art in using pluripotent stem cells for such studies.

KEYWORDS:

embryonic stem cells; genome-wide association study; hypercholesterolemia type II; liver; mutation

PMID:
28818857
PMCID:
PMC5824724
DOI:
10.1161/ATVBAHA.117.309199
[Indexed for MEDLINE]
Free PMC Article

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