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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

Research Project

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Project/Area Number 22249042
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKyoto University

Principal Investigator

NAKAHATA Tatsutoshi  京都大学, iPS細胞研究所, 特定拠点教授 (20110744)

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)
Project Period (FY) 2010 – 2012
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
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.

  • Research Products

    (47 results)

All 2013 2012 2011 2010 Other

All Journal Article (17 results) (of which Peer Reviewed: 14 results) Presentation (27 results) Book (1 results) Remarks (1 results) Patent(Industrial Property Rights) (1 results) (of which Overseas: 1 results)

  • [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
    • Journal Title

      PLoS ONE

      Volume: 8(4) Pages: e59243

    • DOI

      doi:10.1371/journal.pone.0059243

    • Peer Reviewed
  • [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.
    • Journal Title

      Blood

    • DOI

      doi:10.1182/blood-2012-12-474387

    • Peer Reviewed
  • [Journal Article] 疾患特異的 iPS 細胞2013

    • Author(s)
      斎藤潤、中畑龍俊
    • Journal Title

      再生医療

      Volume: 12(1) Pages: 19-29

    • URL

      http://www.m-review.co.jp/magazine/detail/J40_12_01

  • [Journal Article] Selective development of myogenic mesenchymal cells from human embryonic and induced pluripotent stem cells2012

    • Author(s)
      Awaya T., Kato T., Mizuno Y., Chang H., Niwa A., Umeda K., Nakahata T., Heike T.
    • Journal Title

      PLoS ONE

      Volume: 7(12) Pages: e51638

    • DOI

      DOI:10.1371/journal.pone.0051638

    • Peer Reviewed
  • [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.
    • Journal Title

      J. Clin. Immunol

      Volume: 32(4) Pages: 690-7

    • DOI

      doi:10.1007/s10875-012-9684-1

    • Peer Reviewed
  • [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
    • Journal Title

      Blood

      Volume: 120(6) Pages: 1299-308

    • DOI

      doi:10.1182/blood-2012-03-417881

    • Peer Reviewed
  • [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.
    • Journal Title

      Blood

      Volume: 119(23) Pages: 5458-66

    • DOI

      doi:10.1182/blood-2011-05-354167

    • Peer Reviewed
  • [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.
    • Journal Title

      DNA Res

      Volume: 19(2) Pages: 143-152

    • DOI

      doi:10.1093/dnares/dsr047

    • Peer Reviewed
  • [Journal Article] Neutrophil differentiation from human-induced pluripotent stem cells2011

    • Author(s)
      Morishima T., Watanabe K., Niwa A., Fujino H., Matsubara H., Adachi S., Suemori H., Nakahata T., Heike T.
    • Journal Title

      J. Cell. Physiol

      Volume: 226(5) Pages: 1283-1291

    • DOI

      doi:10.1002/jcp.22456

    • Peer Reviewed
  • [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.
    • Journal Title

      Mol. Genet. Metab.

      Volume: 104 Pages: 123-128

    • DOI

      doi:10.1016/j.ymgme.2011.05.020

    • Peer Reviewed
  • [Journal Article] A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors.2011

    • Author(s)
      iwa A., Heike T., Umeda K., Oshima K., Kato I., Sakai H., Suemori H., Nakahata T., Saito M.
    • Journal Title

      PLoS ONE

      Volume: 6(7) Pages: e22261

    • DOI

      doi:10.1371/journal.pone.0022261

    • Peer Reviewed
  • [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.
    • Journal Title

      Blood

      Volume: 118 Pages: 1225-1230

    • DOI

      doi:10.1182/blood-2011-01-329540

    • Peer Reviewed
  • [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
    • Journal Title

      Arthritis Rheum

      Volume: 63 Pages: 3625-3632

    • DOI

      doi:10.1002/art.30512

    • Peer Reviewed
  • [Journal Article] 小児医療をめぐる最先端医学iPS 細胞を用いた今後の医療. (特集 小児医療の最先端-これからの新たな展望)2011

    • Author(s)
      中畑龍俊
    • Journal Title

      小児医療をめぐる最先端医学iPS 細胞を用いた今後の医療

      Volume: Vol.29 No.3 Pages: 26-33

    • URL

      http://tokyoped.umin.ac.jp/mokuji/mokuji100.htm

  • [Journal Article] 疾患特異的 iPS 細胞を用いた遺伝子治療・個別化医療2011

    • Author(s)
      中畑龍俊
    • Journal Title

      小児科

      Volume: Vol.52 No.12 Pages: 1743-1749

    • URL

      http://www.kanehara-shuppan.co.jp/journal/detail.html?kubun=04751&code=047512011113&hakkou_nengetsu=201111

  • [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.
    • Journal Title

      FASEB J

      Volume: 24 Pages: 2245-2253

    • DOI

      doi:10.1096/fj.09-137174

    • Peer Reviewed
  • [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.
    • Journal Title

      Cardiovascular Res

      Volume: 88(2) Pages: 314-323

    • DOI

      doi:10.1093/cvr/cvq189

    • Peer Reviewed
  • [Presentation] Mesodermal development from reprogrammed Fanconi anemia cells is affected by ALDH2 enzymatic activity.2012

    • Author(s)
      Suzuki N., Hira A., Niwa A., Saito M., Matsuo K., Nakahata T., Takata M., Yabe M.
    • Organizer
      54th Annual Meeting of the AMERICAN SOCIETY of HEMATOLOGY
    • Place of Presentation
      Atlanta, USA
    • Year and Date
      20121208-11
  • [Presentation] PS 細胞研究の進展2012

    • Author(s)
      中畑龍俊
    • Organizer
      第59回日本臨床検査医学会学術集会
    • Place of Presentation
      国立京都国際会館
    • Year and Date
      20121129-1202
  • [Presentation] 小児患者におけるiPS 細胞の応用2012

    • Author(s)
      中畑龍俊
    • Organizer
      第49回日本小児アレルギー学会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      20120915-16
  • [Presentation] 表面マーカーによる初期化成功予測因子の解析2012

    • Author(s)
      川村晃久、十河孝浩、上辻麻子、加藤格、長谷川浩二、戎家美紀、西田栄介、中畑龍俊
    • Organizer
      第33回日本炎症・再生医学会
    • Place of Presentation
      ホテル日航福岡(ポスター)
    • Year and Date
      20120705-06
  • [Presentation] 初期化誘導過程で出現する心筋前駆様細胞を用いた安全かつ効率的な心筋再生療法の確立2012

    • Author(s)
      川村晃久、十河孝浩、尾野亘、加藤格、長谷川浩二、中畑龍俊
    • Organizer
      第33回日本炎症・再生医学会
    • Place of Presentation
      ホテル日航福岡(ポスター)
    • Year and Date
      20120705-06
  • [Presentation] CINCA 症候群における NLRP3 体細胞モザイク変異2012

    • Author(s)
      井澤和司、西小森隆太、吉岡耕平、斉藤潤、中畑龍俊、平家俊男
    • Organizer
      第33回日本炎症・再生医学会
    • Place of Presentation
      ホテル日航福岡(ポスター)
    • Year and Date
      20120705-06
  • [Presentation] DIFFERENTIATION OF MONOCYTIC LINEAGE CELLS FROM HUMAN IPS CELLS BY USING A SERUM AND FEEDER FREE CULTURE METHOD2012

    • Author(s)
      Yanagimachi M., Niwa A., Tanaka T., Oshima K., Saito M., Nakahata T.
    • Organizer
      10th Annual Meeting of International Society for Stem Cell Research (ISSCR)
    • Place of Presentation
      Pacifico Yokohama, Japan
    • Year and Date
      20120613-16
  • [Presentation] HUMAN ESC/IPSC-DERIVED MESENCHYMAL STROMA CAN SUPPORT HEMATOPOIETIC PROGENITORS.2012

    • Author(s)
      Niwa A., Saito M., Oshima K., Yanagimachi M., Tanaka T., Kato I., Nakahata,T.
    • Organizer
      10th Annual Meeting of International Society for Stem Cell Research (ISSCR)
    • Place of Presentation
      Pacifico Yokohama, Japan
    • Year and Date
      20120613-16
  • [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
  • [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
  • [Presentation] INDUCED PLURIPOTENT STEM CELLS FROM CINCA SYNDROME PATIENTS AS A MODEL FOR DISSECTING SOMATIC MOSAICISM AND DRUG DISCOVERY.2012

    • Author(s)
      Tanaka T., Saito MK.., Takahashi K., Yamanaka S., Nakahata T.
    • Organizer
      10th Annual Meeting of International Society for Stem Cell Research (ISSCR)
    • Place of Presentation
      Pacifico Yokohama, Japan
    • Year and Date
      20120613-16
  • [Presentation] iPS 細胞研究の今、その可能性と将来展望2012

    • Author(s)
      中畑龍俊
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡国際会議場 福岡市
    • Year and Date
      20120420-22
  • [Presentation] 難治性血液疾患とiPS 細胞.再生つばさの会(再生不良性貧血、骨髄異形成症候群、発作性夜間ヘモグロビン素尿症患者・家族の会)2012

    • Author(s)
      中畑龍俊
    • Organizer
      横浜医療講演会
    • Place of Presentation
      神奈川県総合薬事保健センター
    • Year and Date
      2012-09-08
  • [Presentation] 小児疾患におけるiPS 細胞の応用2011

    • Author(s)
      中畑龍俊
    • Organizer
      第53回日本小児血液・がん学会学術集会
    • Place of Presentation
      ベイシア文化ホール(前橋市)
    • Year and Date
      20111125-27
  • [Presentation] Various clinical applications of human induced pluripotent stem cells.2011

    • Author(s)
      Nakahata T.
    • Organizer
      (Keynote Lecture) 2011 International Symposium on Recent Advances in Pluripotent Stem Cells & 7th Annual Meeting of Taiwan Society for Stem Cell Recearch
    • Place of Presentation
      Taipei , Taiwan
    • Year and Date
      20111001-02
  • [Presentation] 疾患特異的 iPS 細胞を用いた今後の医療2011

    • Author(s)
      中畑龍俊
    • Organizer
      第28回日本医学会総会
    • Place of Presentation
      東京国際展示場
    • Year and Date
      20110917-18
  • [Presentation] ヒト ES/iPS 細胞から骨格筋への分化誘導と筋疾患への応用2011

    • Author(s)
      粟屋智就、加藤竹雄、柴田実、中畑龍俊、平家俊男
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      グランドプリンスホテル新高輪(東京)
    • Year and Date
      20110812-14
  • [Presentation] 患者特異的 iPS 細胞を用いた CINCA 症候群体細胞モザイクでの病態の再現と解析.2011

    • Author(s)
      田中孝之、斎藤潤、西小森隆太、平家俊男、中畑龍俊
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      グランドプリンスホテル新高輪(東京)
    • Year and Date
      20110812-14
  • [Presentation] iPS 細胞を用いた今後の医療2011

    • Author(s)
      中畑龍俊
    • Organizer
      第60回日本医学検査学会
    • Place of Presentation
      東京国際フォーラム
    • Year and Date
      2011-06-05
  • [Presentation] 中畑龍俊2010

    • Author(s)
      中畑龍俊
    • Organizer
      第31回日本臨床薬理学会年会
    • Place of Presentation
      国立京都国際会館 (京都大学医学部附属病院薬剤部)
    • Year and Date
      20101201-03
  • [Presentation] Tracing the developmental route from human ESC/iPSCs to blood via mesoderm in Serum-free 2D culture.2010

    • Author(s)
      Niwa A., Heike T., Umeda K., Ohima K., Kato I., Suemori H., Saito M., Nakahata T.
    • Organizer
      第72回日本血液学会学術集会
    • Place of Presentation
      パシフィコ横浜
    • Year and Date
      20100924-26
  • [Presentation] iPS 細胞と疾患モデル細胞. (ミニシンポジウム 1:血液免疫関連疾患とiPS 細胞)2010

    • Author(s)
      中畑龍俊
    • Organizer
      第31回日本炎症・再生医学会
    • Place of Presentation
      京王プラザホテル(東京)
    • Year and Date
      20100805-06
  • [Presentation] Various clinical applications of human induced pluripotent stem cells (iPS cells)2010

    • Author(s)
      中畑龍俊
    • Organizer
      第16回日本遺伝子治療学会学術集会
    • Place of Presentation
      栃木県総合文化センター(宇都宮市)
    • Year and Date
      20100701-03
  • [Presentation] Derivation of Engraftable Myogenic Precursors from Murine ES/iPS cells and Generation of Disease-specific iPS cells from Patients with Duchenne Muscular dystrophy(DMD) and Other Diseases2010

    • Author(s)
      中畑龍俊
    • Organizer
      51st Annual Meeting of the Japanese Society ofNeurology(第51回日本神経学会総会) Symposium 7(The Forefront of Regenerative Medicine Research)
    • Place of Presentation
      東京国際フォーラム
    • Year and Date
      20100520-22
  • [Presentation] 再生医療の基礎研究に有用なヒト化動物2010

    • Author(s)
      中畑龍俊、伊藤守
    • Organizer
      第57回日本実験動物学会総会 シンポジウム 3(テーマ:再生医療の幕を開く動物実験)
    • Place of Presentation
      京都テルサ
    • Year and Date
      20100512-14
  • [Presentation] 小児における再生医療の展望.2010

    • Author(s)
      中畑龍俊
    • Organizer
      第113回日本小児科学会学術集会
    • Place of Presentation
      盛岡市民文化ホール
    • Year and Date
      20100423-25
  • [Presentation] 疾患特異的 iPS 細胞を用いた今後の医療2010

    • Author(s)
      中畑龍俊
    • Organizer
      第47回日本臨床分子医学会学術集会
    • Place of Presentation
      東京国際フォーラム 東京都
    • Year and Date
      20100410-11
  • [Book] 第3 版 分子生物学2010

    • Author(s)
      中畑龍俊
    • Publisher
      丸善出版
  • [Remarks]

    • URL

      http://www.cira.kyoto-u.ac.jp/j/research/nakahata

  • [Patent(Industrial Property Rights)] 多能性幹細胞から樹状細胞への分化誘導法2011

    • Inventor(s)
      中畑龍俊/斎藤潤/丹羽明/柳町昌克
    • Industrial Property Rights Holder
      京都大学
    • Industrial Property Number
      61/445,856
    • Filing Date
      2011-02-23
    • Overseas

URL: 

Published: 2014-08-29   Modified: 2015-10-15  

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