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Cellosaurus UVs1KOSV (CVCL_ZP08)

[Text version]
Cell line name UVs1KOSV
Accession CVCL_ZP08
Resource Identification Initiative To cite this cell line use: UVs1KOSV (RRID:CVCL_ZP08)
Comments Population: Japanese.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Homozygous (from parent cell line).
Disease UV-sensitive syndrome 1 (NCIt: C173106)
UV-sensitive syndrome (ORDO: Orphanet_178338)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZP07 (UVs1KO)
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
Publications

PubMed=15486090; DOI=10.1073/pnas.0404587101; PMCID=PMC524447
Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G.J., Kurimasa A., Oshimura M., Ichihashi M., Tanaka K.
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
Proc. Natl. Acad. Sci. U.S.A. 101:15410-15415(2004)

Cross-references
Encyclopedic resources Wikidata; Q98134430
Gene expression databases GEO; GSM3048738
GEO; GSM3048739
GEO; GSM3048740
GEO; GSM3048741
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7