Identification of genes responsible for disease in human iPS cells
| Project/Area Number |
24241064
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Medical genome science
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| Research Institution | Osaka University |
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Principal Investigator |
Takeda Junji 大阪大学, 医学(系)研究科(研究院), 教授 (50163407)
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥46,930,000 (Direct Cost: ¥36,100,000、Indirect Cost: ¥10,830,000)
Fiscal Year 2014: ¥15,860,000 (Direct Cost: ¥12,200,000、Indirect Cost: ¥3,660,000)
Fiscal Year 2013: ¥16,120,000 (Direct Cost: ¥12,400,000、Indirect Cost: ¥3,720,000)
Fiscal Year 2012: ¥14,950,000 (Direct Cost: ¥11,500,000、Indirect Cost: ¥3,450,000)
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| Keywords | 疾患関連遺伝子 / ヒトiPS細胞 |
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| Outline of Final Research Achievements |
The purpose of this project is establishment of efficient system for conversion of mono-allelic mutation to bi-allelic mutations in human iPS cell lines. The system is able to identify hidden mutations in human genome without mating.
At first, we made a human iPS cell line in which expression of Bloom syndrome gene (BLM) is suppressed with an addition of doxycycline. Deficiency of BLM results in enhancement of chromosomal crossing over. Combination of BLM deficiency and CRISPR/Cas9-mediated DNA double strand break facilitate site-specific chromosomal crossing over. These results indicate that heterozygous hidden mutations in human genome can be converted to homozygous mutations and identified by mapping of homozygousity.
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Report
(4 results)
Research Products
(12 results)
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[Journal Article] Removal of reprogramming transgenes improves the tissue reconstitution potential of keratinocytes generated from human induced pluripotent stem cells2014
Author(s)
Ken Igawaa, Chikara Kokubu, Kosuke Yusa, Kyoji Horie, Yasuhide Yoshimura, Kaori Yamauchi, Hirofumi Suemori, Hiroo Yokozeki, Masashi Toyoda, Nobutaka Kiyokawa, Hajime Okita, Yoshitaka Miyagawa, Hidenori Akutsu, Akihiro Umezawa, Ichiro Katayama, Junji Takeda.
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Journal Title
Stem Cells Transl Med
Volume: 3
Issue: 9
Pages: 992-1001
DOI
Related Report
Peer Reviewed / Open Access
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