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Homologous recombination-mediated gene correction in iPS cells o Ornithine transcarbamylase deficiency

Research Project

Project/Area Number 23659511
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

TSUCHIYA Shigeru  東北大学, 大学院・医学系研究科, 名誉教授 (30124605)

Co-Investigator(Kenkyū-buntansha) SAKAMOTO Osamu  東北大学, 大学病院, 講師 (20333809)
UCHIYAMA Toru  東北大学, 大学病院, 助教 (10436107)
Project Period (FY) 2011 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords遺伝子修復 / iPS 細胞 / OTC 欠損症 / iPS細胞 / OTC欠損症
Research Abstract

iPS cells was derived from fibroblasts of OTCD. While the cells were transduced with AAV targeting vector for the homologous recombination-mediated gene correction, corrected clones were not obtained. For making iPS cells, we developed the strategies of culturing keratinocytes from human hair. These cells can be passaged and cultured for a long time. The establishment of iPS cells using these cells is in progress.

Report

(3 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Research-status Report
  • Research Products

    (26 results)

All 2013 2012 2011

All Journal Article (15 results) (of which Peer Reviewed: 15 results) Presentation (11 results)

  • [Journal Article] Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake2013

    • Author(s)
      Nakayama T, Tanaka S, Uematsu M, Kikuchi A, Hino-Fukuyo N, Morimoto T, Sakamoto O, Tsuchiya S, Kure S
    • Journal Title

      Brain Dev

      Volume: (In press)

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake.2013

    • Author(s)
      Tojo Nakayama
    • Journal Title

      Brain Dev.

      Volume: in press Issue: 2 Pages: 143-147

    • DOI

      10.1016/j.braindev.2013.02.001

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Development of a Multi-Step Leukemogenesis Model of MLL-Rearranged Leukemia Using Humanized Mice2012

    • Author(s)
      Moriya K, Suzuki M, Watanabe Y, Takahashi T, Aoki Y, Uchiyama T, Kumaki S, Sasahara Y, Minegishi M, Kure S, Tsuchiya S, Sugamuta K, Ishii N
    • Journal Title

      PLos One

      Volume: 7(6)

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Foamy Virus Vector-mediated Gene Correction of a Mouse Model of Wiskott-Aldrich Syndrome2012

    • Author(s)
      Uchiyama T, Adriani M, Jagadeesh GJ, Paine A, Candotti F
    • Journal Title

      Mol. Ther

      Volume: 20(6) Issue: 6 Pages: 1270-1279

    • DOI

      10.1038/mt.2011.282

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Casitas B-cell lymphoma mutation in childhood T -cell acute lymphoblastic leukemia2012

    • Author(s)
      Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y
    • Journal Title

      Leuk Res

      Volume: 36(8) Issue: 8 Pages: 1009-15

    • DOI

      10.1016/j.leukres.2012.04.018

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl2012

    • Author(s)
      Tsuburaya R, Uematsu M, Kikuchi A, Hino-Fukuyo N, Kunishima S, Kato M, Haginoya K, Tsuchiya S
    • Journal Title

      Am J Med Genet A

      Volume: 158A(3) Issue: 3 Pages: 674-7

    • DOI

      10.1002/ajmg.a.34258

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages2012

    • Author(s)
      Niizuma H, Uematsu M, Sakamoto O, Uchiyama T, Horino S, Onuma M, Matsuhashi T, Rikiishi T, Sasahara Y, Minegishi M, Tsuchiya S.
    • Journal Title

      Pediatr Transplant

      Volume: 16(2) Issue: 2

    • DOI

      10.1111/j.1399-3046.2011.01539.x

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.2012

    • Author(s)
      Nao Uchida
    • Journal Title

      Tohoku J Exp Med.

      Volume: 227 Pages: 69-72

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice2012

    • Author(s)
      Moriya K, Suzuki M, Watanabe Y, Takahashi T, Aoki Y, Uchiyama T, Kumaki S, Sasahara Y, Minegishi M, Kure S, Tsuchiya S, Sugamura K, and Ishii N.
    • Journal Title

      PLoS ONE

      Volume: 7(6) Issue: 6 Pages: e37892-e37892

    • DOI

      10.1371/journal.pone.0037892

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan2011

    • Author(s)
      Ishimura M, 他
    • Journal Title

      Journal of clinical immunology

      Volume: (in press) Issue: 6 Pages: 968-976

    • DOI

      10.1007/s10875-011-9594-7

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Octa-arginine mediated delivery of wild-type Lnk protein inhibits TPO-induced M-MOK megakaryoblastic leukemic cell growth by promoting apoptosis2011

    • Author(s)
      Looi CY, Imanishi M, Takaki S, Sato M, Chiba N, Sasahara Y, Futaki S, Tsuchiya S, Kumaki S
    • Journal Title

      PLos One

      Volume: 6(8)

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Defective inhibition of B-cell proliferation by Wiskott-Aldrich syndrome protein-deficient regulatory T cells2011

    • Author(s)
      Adriani M, Jones KA, Uchiyama T, Kirby MR, Silvin C, Anderson SM, Candotti F
    • Journal Title

      Blood

      Volume: 117(24) Issue: 24 Pages: 6608-6611

    • DOI

      10.1182/blood-2010-12-322834

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Quality assessment of umbilical cord blood units at the time of transplantation2011

    • Author(s)
      Kudo Y, Minegishi M, Seki O, Takahashi H, Suzuki A, Narita A, Sato Y, Abe M, Ishioka N, Harigae H, Tsuchiya S
    • Journal Title

      Int J Hematol

      Volume: 93(5) Pages: 645-651

    • NAID

      10029535180

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells2011

    • Author(s)
      Saito M,…, Takada H, et al
    • Journal Title

      J Exp Med

      Volume: 208 Issue: 2 Pages: 235-249

    • DOI

      10.1084/jem.20100799

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] A female case of West syndrome with remission of spams following multiple cerebral hemorrhages2011

    • Author(s)
      Hino-Fukuyo N, Haginoya K, Uematsu M, Tsuchiya S
    • Journal Title

      Brain Dev

      Volume: 33(8) Issue: 8 Pages: 678-682

    • DOI

      10.1016/j.braindev.2010.10.010

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Presentation] リツキシマブが有効であった乳児自己免疫性溶血性貧血の1例2012

    • Author(s)
      森谷邦彦、松橋徹朗、小沼正栄、内山徹、力石健、浅田洋司、鈴木潤、笹原洋二、呉繁夫
    • Organizer
      第54回小児血液・がん学会
    • Place of Presentation
      横浜
    • Year and Date
      2012-11-30
    • Related Report
      2012 Final Research Report
  • [Presentation] Fabio Candotti Development of Foamy Virus Vector System for Primaryimmunodeficiencies2012

    • Author(s)
      Toru Uchiyama、Satoshi Horino、Yoji Sasahara、Naoto Ishii
    • Organizer
      第18回日本遺伝子治療学会
    • Place of Presentation
      熊本
    • Year and Date
      2012-06-28
    • Related Report
      2012 Final Research Report
  • [Presentation] Spontaneous reversionを伴う原発性免疫不全症2症例における長期的臨床経過の検討2012

    • Author(s)
      笹原洋二、佐藤美季、斉藤由佳、小沼正栄、入江正寛、内山徹、力石健、呉繁夫
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2012-04-20
    • Related Report
      2012 Final Research Report
  • [Presentation] 骨髄非破壊的前処置にて同種骨髄移植を施行した慢性活動性EBV感染症4例の臨床的検討2012

    • Author(s)
      笹原洋二、渡辺祐子、小沼正栄、新妻秀剛、内山徹、力石健、峯岸政好、久間木悟、土屋滋
    • Organizer
      第34回日本造血幹細胞移植学会学術集会
    • Place of Presentation
      大阪
    • Year and Date
      2012-02-24
    • Related Report
      2012 Final Research Report
  • [Presentation] RISTを施行した当科年長児および成人期WAS/XLT3症例の臨床的検討2012

    • Author(s)
      笹原洋二、力石健、北沢博、内山徹、森尾友宏、峯岸政好、久間木悟、土屋滋
    • Organizer
      第5回日本免疫不全症研究会
    • Place of Presentation
      東京
    • Year and Date
      2012-01-21
    • Related Report
      2012 Final Research Report
  • [Presentation] Functional roles of WIP in Wiskott-Aldrich Syndrome2012

    • Author(s)
      Yoji Sasahara
    • Organizer
      8th Society of Asian Pediatric Research
    • Place of Presentation
      Korea,Seoul
    • Related Report
      2012 Annual Research Report
  • [Presentation] Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice.2012

    • Author(s)
      森谷邦彦
    • Organizer
      第54回小児血液がん学会
    • Place of Presentation
      横浜
    • Related Report
      2012 Annual Research Report
  • [Presentation] X連鎖重症複合免疫不全症に対する骨髄非破壊的前処置を用いた非血縁者間臍帯血移植B細胞機能2012

    • Author(s)
      久間木悟
    • Organizer
      第54回小児血液がん学会
    • Place of Presentation
      横浜
    • Related Report
      2012 Annual Research Report
  • [Presentation] SKY法が複雑型染色体異常の同定に有用であった急性白血病の2例2011

    • Author(s)
      片山紗乙莉、小沼正栄、内山徹、新妻秀剛、力石健、笹原洋二、呉繁夫
    • Organizer
      第53回日本小児血液・がん学会学術集会
    • Place of Presentation
      前橋
    • Year and Date
      2011-11-25
    • Related Report
      2012 Final Research Report
  • [Presentation] フォーミーウイルスベクターによるWiskott-Aldrich症候群への遺伝子治療2011

    • Author(s)
      内山徹、Fabio Candotti、土屋滋
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2011-08-12
    • Related Report
      2012 Final Research Report
  • [Presentation] The progress of stem cell gene therapy for primary immunodeficiency2011

    • Author(s)
      Toru Uchiyama
    • Organizer
      第17回日本遺伝子治療学会学術集会
    • Place of Presentation
      福岡
    • Year and Date
      2011-07-15
    • Related Report
      2012 Final Research Report

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Published: 2011-08-05   Modified: 2019-07-29  

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