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| Status |
Public on Jun 22, 2013 |
| Title |
Increased X-ray sensitivity and sustained chromosomal stability in Ataxia Telangiectasia-derived induced pluripotent stem (AT-iPS) cells |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
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| Summary |
Disease-specific induced pluripotent stem (iPS) cells have been used for a model to analyze pathogenesis of the disease. In this study, we generated iPS cells derived from a fibroblastic cell line of ataxia telangiectasia (AT-iPS cells), a neurodegenerative, inherited disease with chromosomal instability and hypersensitivity to ionizing radiation. AT-iPS cells exhibited hypersensitivity to X-ray irradiation, one of the characteristics of the disease. Surprisingly, while parental ataxia telangiectasia cells exhibited significant chromosomal abnormalities, AT-iPS cells did not show any chromosomal instability in vitro, i.e. maintenance of intact chromosomes at least by 80 passages (560 days) probably due to robust stability of pluripotent stem cells such as iPS cells and embryonic stem cells. The whole exome analysis also showed comparable nucleotide substitution speed in AT-iPS cells. Interestingly, after longer period of AT-iPS implantation into immunodeficient mice, teratoma generated by AT-iPS cells exhibited telangiectasia and carcinogenesis that are two characteristic symptoms of ataxia telangiectasia. Taken together, AT-iPS cells would be a good model for ataxia telangiectasia to clarify pathogenesis of the disease, and may allow us to facilitate development of drugs that inhibit ataxia and hypersensitivity to ionizing radiation for therapeutic application.
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| Overall design |
The parental AT1OS fibroblast cells and four independent AT-iPS clones were subjected to Illumina HumanCytoSNP-12 v2.1 BeadChip analysis.
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| Contributor(s) |
Toyoda M, Nakabayashi K, Okamura K, Hata K, Umezawa A |
| Citation missing |
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| Submission date |
May 30, 2013 |
| Last update date |
Dec 18, 2017 |
| Contact name |
Akihiro Umezawa |
| E-mail(s) |
umezawa@1985.jukuin.keio.ac.jp
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| Phone |
81-3-5494-7047
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| Organization name |
National Center for Child Health and Development
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| Department |
Center for Regenerative Medicine
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| Street address |
2-10-1 Okura
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| City |
Setagaya-ku |
| State/province |
Tokyo |
| ZIP/Postal code |
157-8535 |
| Country |
Japan |
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| Platforms (1) |
| GPL13829 |
Illumina HumanCytoSNP-12 v2.1 BeadChip |
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| Samples (5)
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| Relations |
| BioProject |
PRJNA205892 |
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