ID   TAT2SF T4
AC   CVCL_C1HK
SY   T4
DR   Wikidata; Q114313095
RX   PubMed=9357546;
CC   Characteristics: Transfected with a pSXneo-1.6-T2AG3 plasmid that contains 1.6 kb of telomeric repeat sequences (PubMed=9357546).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Phe1774Lysfs*17 (c.5320_5326del) (c.5320del7); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Trp2769Ter (c.8307G>A); ClinVar=VCV000189104; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
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_F611 ! TAT2SF
SX   Female
CA   Transformed cell line
DT   Created: 22-09-22; Last updated: 10-09-24; Version: 6
//
RX   PubMed=9357546; DOI=10.1016/S0027-5107(97)00119-x;
RA   Sprung C.N., Bryan T.M., Reddel R.R., Murnane J.P.;
RT   "Normal telomere maintenance in immortal ataxia telangiectasia cell
RT   lines.";
RL   Mutat. Res. 379:177-184(1997).
//