Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability

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Abstract

Ataxia telangiectasia is a neurodegenerative inherited disease with chromosomal instability and hypersensitivity to ionizing radiation. iPS cells lacking ATM (AT-iPS cells) exhibited hypersensitivity to X-ray irradiation, one of the characteristics of the disease. While parental ataxia telangiectasia cells exhibited significant chromosomal abnormalities, AT-iPS cells did not show any chromosomal instability in vitro for at least 80 passages (560 days). Whole exome analysis also showed a comparable nucleotide substitution rate in AT-iPS cells. Taken together, these data show that ATM is involved in protection from irradiation-induced cell death.

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Fukawatase, Y., Toyoda, M., Okamura, K., Nakamura, K. I., Nakabayashi, K., Takada, S., … Umezawa, A. (2014). Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability. Scientific Reports, 4. https://doi.org/10.1038/srep05421

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