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Cellosaurus VU1199-F SV40+V5-ESCO2 (CVCL_XX28)

[Text version]
Cell line name VU1199-F SV40+V5-ESCO2
Synonyms VU1199+SV40+V5-ESCO2; ESCO2+
Accession CVCL_XX28
Resource Identification Initiative To cite this cell line use: VU1199-F SV40+V5-ESCO2 (RRID:CVCL_XX28)
Comments Genetic integration: Method=Transfection; Gene=HGNC; HGNC:27230; ESCO2 (Note=With a N-terminal V5 tag).
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Arg293Serfs*7 (c.877_878AG[1]) (c.877_878delAG); ClinVar=VCV000021251; Zygosity=Homozygous (from parent cell line).
Disease Roberts syndrome (NCIt: C126326)
Roberts syndrome (ORDO: Orphanet_3103)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_XX26 (VU1199-F SV40)
Sex of cell Male
Age at sampling 2M
Category Transformed cell line
Publications

PubMed=19738907; DOI=10.1371/journal.pone.0006936; PMCID=PMC2734174
van der Lelij P., Godthelp B.C., van Zon W., van Gosliga D., Oostra A.B., Steltenpool J., de Groot J., Scheper R.J., Wolthuis R.M.F., Waisfisz Q., Darroudi F., Joenje H., de Winter J.P.
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.
PLoS ONE 4:E6936-E6936(2009)

PubMed=26423134; DOI=10.1038/ncomms9399; PMCID=PMC4600715
de Lange J., Faramarz A., Oostra A.B., de Menezes R.X., van der Meulen I.H., Rooimans M.A., Rockx D.A.P., Brakenhoff R.H., van Beusechem V.W., King R.W., de Winter J.P., Wolthuis R.M.F.
Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function.
Nat. Commun. 6:8399.1-8399.12(2015)

Cross-references
Encyclopedic resources Wikidata; Q98134609
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10