2011 Fiscal Year Final Research Report
Investigation of pathogenesis and novel therapy for Shwachman-Diamond syndrome using iPS cells.
| Project/Area Number |
21591360
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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) |
HEIKE Toshio 京都大学, 医学研究科, 講師 (90190173)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 再生医学 / 発生・分化 / 幹細胞 / 骨髄不全 |
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| Research Abstract |
In an attempt to elucidate the pathogenesis of congenital marrow failure syndromes, we established a neutrophil differentiation system from human iPS cells. To evaluate this system as a tool to investigate pathogenesis of Shwachman-Diamond syndrome, we generate iPS cells from a patient with severe congenital neutropenia caused by HAX-1 gene mutation, and differentiate neutrophils from these iPS cells. The proportion of mature neutrophils was remarkably decreased by differentiation from HAX1-iPS cells compared to iPS cells derived from a healthy donor. Our differentiation system using patient-derived iPS cells recapitulates the phenotype of the patient with severe congenital neutropenia. These results suggest our model is useful to investigate the pathogenesis of bone marrow failure syndromes with neutropenia including Shwachman-Diamond syndrome.
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Research Products
(9 results)
