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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
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.
Overall design	The parental AT1OS fibroblast cells and four independent AT-iPS clones were subjected to Illumina HumanCytoSNP-12 v2.1 BeadChip analysis.
Contributor(s)	Masashi T, Nakabayashi K, Okamura K, Hata K,Umezawa A
Citation missing	Has this study been published? Please update ornotify GEO. Note that private accession will be released, in accordance to guidelines.
Submission date	May 30, 2013
Last update date	May 30, 2013
Contact name	Akihiro Umezawa
E-mail	umezawa@1985.jukuin.keio.ac.jp
Phone	81-3-5494-7047
Fax	81-3-5494-7048
URL	http://1985.jukuin.keio.ac.jp/umezawa/HTML
Organization name	National Center for Child Health and Development
Department	Reproductive Biology
Street address	2-10-1 Okura
City	Setagaya-ku
State/province	Tokyo
ZIP/Postal code	157-8535
Country	Japan
Platforms (1)	GPL13829 Illumina HumanCytoSNP-12 v2.1 BeadChip
Samples (5)  Less...	GSM1151202 AT1OS cells GSM1151203 ATiPS-262 cells at passage 17 GSM1151204 ATiPS-263 cells at passage 27 GSM1151205 ATiPS-264 cells at passage 25 GSM1151206 ATiPS-024 cells at passage 25
Relations
BioProject	PRJNA205892

Supplementary file	Size	Download	File type/resource
GSE47498_non-normalized.txt.gz	20.4 Mb	(http)	TXT
Processed data included within Sample table
Raw data is available on Series record