Medulloblastoma generation in nevoid basal cell carcinoma syndromee-induced pluripotent stem cells.
Project/Area Number |
15K19041
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Human genetics
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Research Institution | Kitasato University |
Principal Investigator |
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Research Collaborator |
IKEMOTO Yu
KATO Chise
ARAI Yuto
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Project Period (FY) |
2015-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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Keywords | 母斑基底細胞癌症候群 / 髄芽腫 / iPS細胞 / CRISPR/Cas9システム / 奇形腫 / CRSPR/Cas9 / 遺伝病 / NBCCS |
Outline of Final Research Achievements |
In this study, we established iPSCs derived from patients with Nevoid basal cell carcinoma syndrome (NBCCS), and tried to generate disease models in order to perform drug screening for NBCCS and the syndrome-related tumors. NBCCS-iPSCs had characteristics of pluripotent stem cells. Growth and differentiation capabilities of iPSCs remained unaffected by mutations in the PTCH1 gene. Meanwhile, medulloblastoma was formed in all the teratomas generated from all NBCCS-iPSC clones established from 4 different patients. Sequencing analysis of the microdissected medulloblastoma specimen revealed a loss of heterozygosity of the PTCH1 gene. These results demonstrated that NBCCS-iPSCs can be a good model of NBCCS-derived medulloblastoma, and thereby used for drug screening to prevent or treat medulloblastomas. Further pathological and molecular analyses are expected to reveal the mechanisms for tumorigenesis of Hh-related tumors.
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Report
(3 results)
Research Products
(4 results)
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[Journal Article] Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.2017
Author(s)
Ikemoto, Y., Takayama, Y., Fujii, K., Masuda, M., Kato, C., Hatsuse, H., Fujitani, K., Nagao, K., Kameyama, K., Ikehara, H., Toyoda, M., Umezawa, A. and Miyashita, T.
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Journal Title
Journal of Medical Genetics
Volume: -
Issue: 8
Pages: 579-584
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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