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Linda E. Greenbaum
Published in Volume 120, Issue 9
J Clin Invest. 2010; 120(9):3102–3105 doi:10.1172/JCI44422
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Figure 2
Genetic diseases of the liver modeled in iPS cell–derived human hepatocytes.

Rashid and colleagues investigated the potential to model inborn genetic diseases of the liver in human iPS cell–derived hepatocytes (19). Skin fibroblasts were obtained from patients with 5 inborn metabolic liver diseases: AAT, FH, GSD1a, hereditary tyrosinemia, and Crigler-Najjar syndrome. Fibroblasts were reprogrammed to become iPS cells by introducing retroviral vectors expressing KLF4, OCT4, SOX2, and c-myc. iPS cells from 3 of these diseases were then differentiated in culture to become hepatocytes and analyzed for defects specific to each genetic disease.