ID   IVBF
AC   CVCL_ZT88
SY   IVB-F
DR   Wikidata; Q98126789
RX   PubMed=1467311;
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; 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   4Y
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).
//