ID   161MA-M
AC   CVCL_ZT85
SY   161 MAnchester-M
DR   Wikidata; Q98125287
RX   PubMed=8649785;
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Leu344Pro (c.1031T>C); ClinVar=VCV000012375; Zygosity=Heterozygous (PubMed=8649785).
CC   Derived from site: Metastatic; Retroperitoneal space; UBERON=UBERON_0003693.
DI   NCIt; C3476; Li-Fraumeni syndrome
DI   NCIt; C27904; Retroperitoneal leiomyosarcoma
DI   ORDO; Orphanet_524; Li-Fraumeni syndrome
DI   ORDO; Orphanet_64720; Leiomyosarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZT83 ! 160MA
OI   CVCL_ZT84 ! 161MA-F
SX   Male
AG   45Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=8649785;
RA   Varley J.M., McGown G., Thorncroft M., Cochrane S., Morrison P.,
RA   Woll P.J., Kelsey A.M., Mitchell E.L.D., Boyle J., Birch J.M.,
RA   Evans D.G.R.;
RT   "A previously undescribed mutation within the tetramerisation domain
RT   of TP53 in a family with Li-Fraumeni syndrome.";
RL   Oncogene 12:2437-2442(1996).
//