ID   VU1199-F SV40
AC   CVCL_XX26
SY   VU1199 + SV40; ESCO2-
DR   Wikidata; Q98134605
RX   PubMed=19738907;
RX   PubMed=26423134;
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Arg293Serfs*7 (c.877_878AG[1]) (c.877_878delAG); ClinVar=VCV000021251; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126326; Roberts syndrome
DI   ORDO; Orphanet_3103; Roberts syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_XX25 ! VU1199-F
SX   Male
AG   2M
CA   Transformed cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=19738907; DOI=10.1371/journal.pone.0006936; PMCID=PMC2734174;
RA   van der Lelij P., Godthelp B.C., van Zon W., van Gosliga D.,
RA   Oostra A.B., Steltenpool J., de Groot J., Scheper R.J., Wolthuis R.M.F.,
RA   Waisfisz Q., Darroudi F., Joenje H., de Winter J.P.;
RT   "The cellular phenotype of Roberts syndrome fibroblasts as revealed by
RT   ectopic expression of ESCO2.";
RL   PLoS ONE 4:E6936-E6936(2009).
//
RX   PubMed=26423134; DOI=10.1038/ncomms9399; PMCID=PMC4600715;
RA   de Lange J., Faramarz A., Oostra A.B., de Menezes R.X.,
RA   van der Meulen I.H., Rooimans M.A., Rockx D.A.P., Brakenhoff R.H.,
RA   van Beusechem V.W., King R.W., de Winter J.P., Wolthuis R.M.F.;
RT   "Defective sister chromatid cohesion is synthetically lethal with
RT   impaired APC/C function.";
RL   Nat. Commun. 6:8399.1-8399.12(2015).
//