ID   AT2KY TERT
AC   CVCL_L457
SY   AT2KY/TERT
DR   JCRB; KURB1779
DR   Wikidata; Q54750906
RX   PubMed=14570874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
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)
HI   CVCL_2861 ! AT2KY
SX   Female
AG   4Y
CA   Telomerase immortalized cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 17
//
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).
//