ID   IIICF
AC   CVCL_ZT89
SY   III-CF
DR   Wikidata; Q98126771
RX   PubMed=1467311;
RX   PubMed=7651392;
RX   PubMed=19935656;
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Thr125Thr (c.375G>A); ClinVar=VCV000177825; Zygosity=Heterozygous; Note=Impairs TP53 splicing dramatically (PubMed=1467311).
CC   Derived from site: In situ; Breast, stroma; UBERON=UBERON_0003584.
DI   NCIt; C3476; Li-Fraumeni syndrome
DI   ORDO; Orphanet_524; Li-Fraumeni syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   30-40Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=1467311;
RA   Warneford S.G., Witton L.J., Townsend M.L., Rowe P.B., Reddel R.R.,
RA   Dalla-Pozza L., Symonds G.;
RT   "Germ-line splicing mutation of the p53 gene in a cancer-prone
RT   family.";
RL   Cell Growth Differ. 3:839-846(1992).
//
RX   PubMed=7651392; DOI=10.1128/mcb.15.9.4745; PMCID=PMC230718;
RA   Rogan E.M., Bryan T.M., Hukku B., MacLean K., Chang A.C.-M., Moy E.L.,
RA   Englezou A., Warneford S.G., Dalla-Pozza L., Reddel R.R.;
RT   "Alterations in p53 and p16INK4 expression and telomere length during
RT   spontaneous immortalization of Li-Fraumeni syndrome fibroblasts.";
RL   Mol. Cell. Biol. 15:4745-4753(1995).
//
RX   PubMed=19935656; DOI=10.1038/nbt.1587;
RA   Henson J.D., Cao Y., Huschtscha L.I., Chang A.C.-M., Au A.Y.M.,
RA   Pickett H.A., Reddel R.R.;
RT   "DNA C-circles are specific and quantifiable markers of
RT   alternative-lengthening-of-telomeres activity.";
RL   Nat. Biotechnol. 27:1181-1185(2009).
//