title: Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability.
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.
authors: 1] Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan [2] School of BioMedical Science, Tokyo Medical and Dental University, Tokyo, 113-0034, Japan.
authors: Yoshihiro
authors: Y
authors: Fukawatase
authors: 1] Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan [2] Department of Research Team for Geriatric Medicine, Tokyo Metropolitan Institute of Gerontology, Tokyo, 173-0015, Japan.
authors: Masashi
authors: M
authors: Toyoda
authors: Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Kohji
authors: K
authors: Okamura
authors: Department of Research Team for Geriatric Pathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, 173-0015, Japan.
authors: Ken-ichi
authors: K
authors: Nakamura
authors: Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Kazuhiko
authors: K
authors: Nakabayashi
authors: Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Shuji
authors: S
authors: Takada
authors: Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Mayu
authors: M
authors: Yamazaki-Inoue
authors: Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Akira
authors: A
authors: Masuda
authors: Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Michiyo
authors: M
authors: Nasu
authors: Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Kenichiro
authors: K
authors: Hata
authors: Department of BioSciences, Kitasato University School of Science, Kanagawa, 252-0373, Japan.
authors: Kazunori
authors: K
authors: Hanaoka
authors: 1] Department of Chemical and Materials Engineering, National Central University, Taoyuan, 32001, Taiwan [2] College of Science, King Saud University, Riyadh, 11451, Saudi Arabia.
authors: Akon
authors: A
authors: Higuchi
authors: Department of Research Team for Geriatric Pathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, 173-0015, Japan.
authors: Kaiyo
authors: K
authors: Takubo
authors: Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
authors: Akihiro
authors: A
authors: Umezawa
mesh_terms: D000818:Animals; D017209:Apoptosis / Q000528:radiation effects; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000473:pathology* / Q000532:radiotherapy; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics; D015153:Blotting, Western; D002454:Cell Differentiation / Q000528:radiation effects; D049109:Cell Proliferation / Q000528:radiation effects; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D002648:Child; D043171:Chromosomal Instability / Q000528:radiation effects*; D059472:Exome / Q000235:genetics*; D005455:Fluorescent Antibody Technique; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000528:radiation effects; D007621:Karyotyping; D008297:Male; D051379:Mice; D016688:Mice, Inbred NOD; D016513:Mice, SCID; D012333:RNA, Messenger / Q000235:genetics; D011836:Radiation Tolerance / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013724:Teratoma / Q000235:genetics / Q000473:pathology* / Q000532:radiotherapy; D014965:X-Rays
chemical_list: D012333:RNA, Messenger; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins