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Cellosaurus VU1199-F SV40+GFP-ESCO2 (CVCL_XX27)

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Cell line name VU1199-F SV40+GFP-ESCO2
Accession CVCL_XX27
Resource Identification Initiative To cite this cell line use: VU1199-F SV40+GFP-ESCO2 (RRID:CVCL_XX27)
Comments Genetic integration: Method=Transfection; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP).
Genetic integration: Method=Transfection; Gene=HGNC; HGNC:27230; ESCO2.
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen.
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
Petra van der Lelij, Barbara C. Godthelp, Wouter van Zon, Djoke van Gosliga, Anneke B. Oostra, Jurgen Steltenpool, Jan de Groot, Riekeld J. Scheper, Rob M.F. Wolthuis, Quinten Waisfisz, Firouz Darroudi ...Show all 13 authors... , Hans Joenje, Johan P. de Winter; Show fewer authors
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.
PLoS ONE 4:e6936.1-e6936.11(2009)

Cross-references
Encyclopedic resources Wikidata; Q98134607
Entry history
Entry creation19-Dec-2019
Last entry update14-Aug-2025
Version number12