ID   2674T
AC   CVCL_ZT95
SY   2674
DR   Wikidata; Q98125367
RX   PubMed=2259385;
RX   PubMed=7779715;
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Gly245Asp (c.734G>A); ClinVar=VCV000012355; Zygosity=Heterozygous (PubMed=2259385; PubMed=7779715).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   12Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=2259385; DOI=10.1038/348747a0;
RA   Srivastava S., Zou Z.-Q., Pirollo K.F., Blattner W.A., Chang E.H.-P.;
RT   "Germ-line transmission of a mutated p53 gene in a cancer-prone family
RT   with Li-Fraumeni syndrome.";
RL   Nature 348:747-749(1990).
//
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).
//