2017 Fiscal Year Final Research Report
Investigation of a hereditary liver disease using induced pluripotent stem cells
Project/Area Number |
15K08994
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Gastroenterology
|
Research Institution | Kanazawa University |
Principal Investigator |
|
Co-Investigator(Kenkyū-buntansha) |
中西 千明 金沢大学, 附属病院, 助教 (80623660)
|
Project Period (FY) |
2015-04-01 – 2018-03-31
|
Keywords | iPS細胞 / ウィルソン病 / 銅代謝異常 / 一卵性双生児 |
Outline of Final Research Achievements |
We performed the comprehensive analysis to elucidate the clinical difference between clinically divergent identical twins with abnormality of copper metabolism. We detected the mutations in ATP7B gene which is the causative gene of Wilson’s disease. We generated induced pluripotent stem cells (iPS cells) from peripheral blood cells of each identical twin. In vitro, although we confirmed the abnormality which is the phenotype of Wilson’s disease, we could not confirm the difference in the phenotype between identical twins.
|
Free Research Field |
消化器内科
|