2012 Fiscal Year Final Research Report
Recapitulation of phenotypes and discovery of a novel treatment with disease-specific human ES/ iPS cells from various hereditary diseases
| Project/Area Number |
22249042
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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 |
Pediatrics
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
SAITO Megumu 京都大学, iPS 細胞研究所, 准教授 (90535486)
NIWA Akira 京都大学, iPS 細胞研究所, 特定助教 (20546999)
OSHIMA Koichi 京都大学, iPS 細胞研究所, 特定研究員 (60525377)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 遺伝性疾患 / iPS細胞 / 遺伝子改変 / 疾患解析 / NOGマウス / 疾患特異的 |
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| Research Abstract |
We were engaged in research to generate iPS cells from somaticcells of patients with various hereditary diseases, induced these iPS ells to differentiate appropriately into the cells the diseased organs,and thereby elucidate the etiology and the mechanisms of the diseases. We succeeded the generation of disease-specific iPS cells from patients with congenital neutropenia, Duchenne muscular dystrophy, CINCA syndrome, Nakajyo-Nishimura syndrome, spinal muscular atrophy, Chediak-Higashi syndrome, Hirschsprung disease by using conventional retroviral method. We failed to generate iPS cells from patients with Fanconi Anemia and reticular dysgenesis without gene collection at the stage of skin fibroblasts. We have confirmed recapitulation of phenotypes with several disease-specific iPS cells including CINCA syndrome, reticular dysgenesis and Chediak-Higashi syndrome.
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Research Products
(47 results)
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[Journal Article] Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell- free conditions.2013
Author(s)
Yanagimachi MD, Niwa A, Tanaka T, Ozaki F, Nishimoto S, Murata Y, Yasumi T, Ito J, Tomida S, Oshima K, Asaka I, Goto H, Heike T, Nakahata T, Saito MK
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Journal Title
PLoS ONE
Volume: 8(4)
Pages: e59243
DOI
Peer Reviewed
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[Journal Article] Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome2013
Author(s)
Saida S., Watanabe K., Sato-Otsubo A., Terui K., Yoshida K., Okuno Y., Toki T., Wang RN., Shiraishi Y., Miyano S., Kato I., Morishima T., Fujino H., Umeda K., Hiramatsu H., Adachi S., Ito E., Ogawa S., Ito M., Nakahata T., Heike T.
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Journal Title
DOI
Peer Reviewed
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[Journal Article] Multiple reversions of an IL2RG mutation restore combined immunodeficiency patient.2012
Author(s)
Kawai T., Saito M., Nishikomori R., Yasumi T., Izawa K., Murakami T., Okamoto N., Mori Y., Nakagawa N., Imai K., Nonoyama S., Wada T., Yatie A., Oomori K., Nakahata T., Heike T.
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Journal Title
J. Clin. Immunol
Volume: 32(4)
Pages: 690-7
DOI
Peer Reviewed
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[Journal Article] Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery2012
Author(s)
Tanaka T., Takahashi K., Yamane M., Tomida S., Nakamura S., Oshima K., Niwa A., Nishikomori R., Kambe N., Hara H., Mitsuyama M., Morone N., Heuse J.E., Yamamoto T., Watanabe A., Sato-Otsubo A., Ozawa S., Asaka I., Heike T., Yamanaka S., Nak
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Journal Title
Blood
Volume: 120(6)
Pages: 1299-308
DOI
Peer Reviewed
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[Journal Article] Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia and immunodeficiency.2012
Author(s)
Kawai T., Nishikomori R., Izawa K., Murata Y., Tanaka N., Sakai H., Saito M., Yasumi T., Takaoka Y., Nakahata T., Mizukami T., Nunoi H., Kiyohara Y., Yoden A., Mutara T., Sasaki S., Ito E., Akutagawa H., Kawai T., Imai C., Okada S., Kobayashi M., Heike T.
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Journal Title
Blood
Volume: 119(23)
Pages: 5458-66
DOI
Peer Reviewed
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[Journal Article] Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing2012
Author(s)
IzawaK., Hijikata A., Tanaka N., Kawai T., Saito M.K., Goldbach-Mansky R., Aksentijevich I., Yasumi T., Nakahata T., Heike T., Nishikomori R., OharaO.
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Journal Title
DNA Res
Volume: 19(2)
Pages: 143-152
DOI
Peer Reviewed
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[Journal Article] Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells.2011
Author(s)
Kawagoe S., Higuchi T., Xing-Li M., Shimada Y., Dhimizu H., Fukuda T., Chang H., Nakahata T., Fukada S., Ida H., Ohashi T., Eto Y.
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Journal Title
Mol. Genet. Metab.
Volume: 104
Pages: 123-128
DOI
Peer Reviewed
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[Journal Article] Rapid diagnosis of familial hemophagocytic lymphohistiocytosis type 3 (FHL3) by flow cytometric detection of intraplatelet Munc 13-4 protein.2011
Author(s)
Murata Y., Yasumi T., Shirakawa R., Izawa K., Sakai H., Abe J., Tanaka N., Kawai T., Oshima K., Saito M., Nishikomori R., Ohara O.、Ishii E., Nakahata T., Horiuchi H., Heike T.
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Journal Title
Blood
Volume: 118
Pages: 1225-1230
DOI
Peer Reviewed
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[Journal Article] High incidence of NLRP3 somatic mosaicism in chronic infantile neurological cutaneous and articular syndrome patients; the results of an international multicenter collaborative study.2011
Author(s)
Tanaka N., Nishikomori R., Saito M., Izawa K., Sakuma M., Morimoto T., Kambe N., Watanabe S., Oshima K., Ohara O. 、 Goldbach-Mansky R., Aksentijevich I., Arostegui J.I., Yague Jm Joost F., van Gijn M.E., SaintBasile G., Pontillo A., K
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Journal Title
Arthritis Rheum
Volume: 63
Pages: 3625-3632
DOI
Peer Reviewed
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[Journal Article] Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells2010
Author(s)
Mizuno Y., Chang H., Umeda K., Niwa A., Iwasa T., Awaya T., Fukada S., Hiroshi Yamamoto H., Yamanaka S., Nakahata T., Heike T.
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Journal Title
FASEB J
Volume: 24
Pages: 2245-2253
DOI
Peer Reviewed
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[Journal Article] Cell line-dependent differentiation of induced pluripotent stem cells into cardiomyocytes in mice2010
Author(s)
Kaichi S., Hasegawa K., Takaya T., Yokoo N., Mima T., Kawamura T., Morimoto T., Baba S., Doi H., Yamanaka S., Nakahata T., Heike T.
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Journal Title
Cardiovascular Res
Volume: 88(2)
Pages: 314-323
DOI
Peer Reviewed
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[Presentation] INDUCED PLURIPOTENT STEM CELL MODEL OF SEVERE CONGENITAL NEUTROPENIA WITH HAX1 GENE DEFICIENCY.2012
Author(s)
Morishima T., Watanabe K., Niwa A., Tanaka T., Saida S., Kato I., UmedaK., Hiramatsu H., Matsubara K., Adachi S., Nakahata T., Heike T.
Organizer
10th Annual Meeting of International Society for Stem Cell Research (ISSCR)
Place of Presentation
Pacifico Yokohama, Japan
Year and Date
20120613-16
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[Presentation] UNDERSTANDING THE PATHOLOGY OF THE ARTHROPATHY IN CHRONIC INFANTILE NEUROLOGICAL CUTANEOUS AND ARTICULAR SYNDROME BY USING IPS CELLS TECHNOLOGY.2012
Author(s)
Yokoyama K., Ikeya, M., Nasu A., Tanaka T., Saito M., Umeda K., Nishikomori R., Nakahata T., Heike T., Toguchida J.
Organizer
10th Annual Meeting of International Society for Stem Cell Research (ISSCR)
Place of Presentation
Pacifico Yokohama, Japan
Year and Date
20120613-16
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