ID   AT1KY TERT
AC   CVCL_RW79
SY   AT1KY/TERT
DR   JCRB; JCRB3059
DR   JCRB; KURB1774
DR   Wikidata; Q54750844
RX   PubMed=14570874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (from parent cell line).
CC   Transfected with: HGNC; 11730; TERT.
CC   Discontinued: JCRB; KURB1774; probable.
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: 10,11
ST   D13S317: 11,12
ST   D16S539: 10,12
ST   D5S818: 10
ST   D7S820: 9,12
ST   TH01: 6,7
ST   TPOX: 11,12
ST   vWA: 18
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RW78 ! AT1KY
SX   Female
AG   7Y
CA   Telomerase immortalized cell line
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 12
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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).
//