ID   AT1OS
AC   CVCL_2860
SY   Ataxia Telangiectasia 1 OSaka
DR   BioSample; SAMN03471616
DR   JCRB; JCRB0308
DR   Wikidata; Q54750849
RX   PubMed=6876478;
RX   PubMed=9600235;
RX   PubMed=14570874;
RX   PubMed=27197874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Homozygous (PubMed=9600235).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0308
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 9
ST   D16S539: 9,12
ST   D5S818: 10
ST   D7S820: 11,12
ST   TH01: 9
ST   TPOX: 10,11
ST   vWA: 17,18
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 17
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RX   PubMed=6876478; DOI=10.1007/BF01897042;
RA   Ikenaga M., Midorikawa M., Abe J., Mimaki T.;
RT   "The sensitivities to radiations and radiomimetic chemicals of cells
RT   from patients with ataxia telangiectasia.";
RL   Jinrui Idengaku Zasshi 28:1-10(1983).
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RX   PubMed=9600235; DOI=10.1007/s004390050712;
RA   Ejima Y., Sasaki M.S.;
RT   "Mutations of the ATM gene detected in Japanese ataxia-telangiectasia
RT   patients: possible preponderance of the two founder mutations
RT   4612del165 and 7883del5.";
RL   Hum. Genet. 102:403-408(1998).
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RX   PubMed=14570874; DOI=10.1074/jbc.M309457200;
RA   Naka K., Tachibana A., Ikeda K., Motoyama N.;
RT   "Stress-induced premature senescence in hTERT-expressing ataxia
RT   telangiectasia fibroblasts.";
RL   J. Biol. Chem. 279:2030-2037(2004).
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RX   PubMed=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825;
RA   Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M.,
RA   Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S.,
RA   Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S.,
RA   Hata K., Toyoda M., Umezawa A.;
RT   "Distinctive features of single nucleotide alterations in induced
RT   pluripotent stem cells with different types of DNA repair deficiency
RT   disorders.";
RL   Sci. Rep. 6:26342-26342(2016).
//