ID   AT1KY
AC   CVCL_RW78
SY   Ataxia Telangiectasia 1 KYoto
DR   JCRB; KURB1773
DR   Wikidata; Q54750842
RX   PubMed=9600235;
RX   PubMed=14570874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (PubMed=9600235).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (PubMed=9600235).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 13
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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).
//