ID   2800T
AC   CVCL_ZT97
DR   Wikidata; Q98125371
RX   PubMed=7779715;
RX   PubMed=9649131;
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Tyr234Cys (c.701A>G); ClinVar=VCV000127820; Zygosity=Heterozygous (PubMed=7779715).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3476; Li-Fraumeni syndrome
DI   ORDO; Orphanet_524; Li-Fraumeni syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   71Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=7779715; DOI=10.1038/bjc.1995.237; PMCID=PMC2033854;
RA   Mirzayans R., Aubin R.A., Bosnich W., Blattner W.A., Paterson M.C.;
RT   "Abnormal pattern of post-gamma-ray DNA replication in radioresistant
RT   fibroblast strains from affected members of a cancer-prone family with
RT   Li-Fraumeni syndrome.";
RL   Br. J. Cancer 71:1221-1230(1995).
//
RX   PubMed=9649131; DOI=10.1038/bjc.1998.364; PMCID=PMC2150396;
RA   Boyle J.M., Mitchell E.L.D., Greaves M.J., Roberts S.A., Tricker K.,
RA   Burt E., Varley J.M., Birch J.M., Scott D.;
RT   "Chromosome instability is a predominant trait of fibroblasts from
RT   Li-Fraumeni families.";
RL   Br. J. Cancer 77:2181-2192(1998).
//