2017 Fiscal Year Final Research Report
Restored Low Density Lipoprotein Uptake in Gene-corrected iPSC-derived Hepatocytes from Homozygous Familial Hypercholesterolemia
| Project/Area Number |
15K19508
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Metabolomics
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| Research Institution | Kanazawa University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | iPS細胞 / CRISPR/Cas9 |
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| Outline of Final Research Achievements |
To examine whether LDLR function of HLCs from genetically-corrected iPSCs can be restored in human, iPSCs were generated from a HoFH patient harboring a point mutation (c.901G>T) in exon 6 of LDLR, which impairs LDL uptake. We generated one homozygous gene-corrected HoFH-iPSC clone and two heterozygous gene-corrected HoFH-iPSC clones using the CRISPR/Cas9 system. Subsequently, we obtained functionally corrected HLCs with significantly recovered LDL uptake ability compared to those without gene correction. Under these conditions, few immunological rejections were observed by cell-mediated cytotoxicity assay.
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| Free Research Field |
脂質代謝
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