ID   VU1199-F SV40+GFP-ESCO2
AC   CVCL_XX27
DR   Wikidata; Q98134607
RX   PubMed=19738907;
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=HGNC; HGNC:27230; ESCO2.
CC   Genetic integration: Method=Transfection; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
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_XX26 ! VU1199-F SV40
SX   Male
AG   2M
CA   Transformed cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 10
//
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).
//