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Cellosaurus VU1199-F (CVCL_XX25)

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Cell line name VU1199-F
Synonyms VU1199
Accession CVCL_XX25
Resource Identification Initiative To cite this cell line use: VU1199-F (RRID:CVCL_XX25)
Comments 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 (PubMed=19738907).
Disease Roberts syndrome (NCIt: C126326)
Roberts syndrome (ORDO: Orphanet_3103)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_XX26 (VU1199-F SV40)
Sex of cell Male
Age at sampling 2M
Category Finite 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; Q98134603
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9