ID   AT-LD2-hTERT
AC   CVCL_VL03
DR   Wikidata; Q93326265
RX   PubMed=12446774;
CC   Sequence variation: Mutation; HGNC; HGNC:7230; MRE11; Simple; p.Arg633Ter (c.1897C>T); ClinVar=VCV000008782; Zygosity=Homozygous (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; C132224; Ataxia-telangiectasia-like disorder 1
DI   ORDO; Orphanet_251347; Ataxia-telangiectasia-like disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_VL02 ! AT-LD2
SX   Male
AG   20Y
CA   Telomerase immortalized cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002; PMCID=PMC139882;
RA   Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S.,
RA   Cordeiro-Stone M., Kaufmann W.K.;
RT   "An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation
RT   following UVC-induced DNA damage.";
RL   Mol. Cell. Biol. 22:8552-8561(2002).
//