ID   AT2KY
AC   CVCL_2861
SY   Ataxia Telangiectasia 2 KYoto
DR   BioSample; SAMN03471619
DR   JCRB; JCRB0316
DR   JCRB; KURB1777
DR   JCRB; KURB1778
DR   Wikidata; Q54750865
RX   PubMed=1978855;
RX   PubMed=8845835;
RX   PubMed=9600235;
RX   PubMed=14570874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (PubMed=9600235).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (PubMed=9600235).
CC   Misspelling: JCRB316; Note=Based on the JCRB catalog number.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 12
ST   D5S818: 9,10
ST   D7S820: 11
ST   TH01: 7,9
ST   TPOX: 9,12
ST   vWA: 18
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 20
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RX   PubMed=1978855; DOI=10.1080/09553009014552301;
RA   Ejima Y., Oshimura M., Sasaki M.S.;
RT   "Establishment of a novel immortalized cell line from ataxia
RT   telangiectasia fibroblasts and its use for the chromosomal assignment
RT   of radiosensitivity gene.";
RL   Int. J. Radiat. Biol. 58:989-997(1990).
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RX   PubMed=8845835; DOI=10.1093/hmg/5.4.433;
RA   Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K.,
RA   Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M.,
RA   Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A.,
RA   Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y.,
RA   Bar-Shira A.;
RT   "Predominance of null mutations in ataxia-telangiectasia.";
RL   Hum. Mol. Genet. 5:433-439(1996).
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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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