ID   AT6KY TERT
AC   CVCL_1G67
SY   AT6KY/TERT
DR   JCRB; KURB1797
DR   Wikidata; Q54750964
RX   PubMed=14570874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.332del165 (g.484C>T) (Ex7del); Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces 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_1G66 ! AT6KY
SX   Male
AG   8Y
CA   Telomerase immortalized cell line
DT   Created: 08-07-15; Last updated: 14-08-25; Version: 15
//
RX   PubMed=14570874; DOI=10.1074/jbc.M309457200;
RA   Naka, Kazuhito
RA   Tachibana, Akira
RA   Ikeda, Kyoji
RA   Motoyama, Noboru
RT   "Stress-induced premature senescence in hTERT-expressing ataxia
RT   telangiectasia fibroblasts.";
RL   J. Biol. Chem. 279:2030-2037(2004).
//