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Cellosaurus XPCS2BASV pTTD6VI-transfected Cl-5 (CVCL_ZP39)

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Cell line name XPCS2BASV pTTD6VI-transfected Cl-5
Synonyms Cl-5
Accession CVCL_ZP39
Resource Identification Initiative To cite this cell line use: XPCS2BASV pTTD6VI-transfected Cl-5 (RRID:CVCL_ZP39)
Comments Genetic integration: Method=Transfection; Gene=HGNC; HGNC:3435; ERCC3 (Note=With p.Thr119Pro).
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Klebsiella pneumoniae 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:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (from parent cell line).
Disease Xeroderma pigmentosum-Cockayne syndrome complex (NCIt: C156031)
Xeroderma pigmentosum-Cockayne syndrome complex (ORDO: Orphanet_220295)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZP38 (XPCS2BASV)
Sex of cell Male
Age at sampling 36Y
Category Transformed cell line
Publications

PubMed=10332046; DOI=10.1093/hmg/8.6.1125
Lydia Riou, Lin Zeng, Odile Chevallier-Lagente, Anne Stary, Osamu Nikaido, Alain Taieb, Geert Weeda, Mauro Mezzina, Alain Sarasin;
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
Hum. Mol. Genet. 8:1125-1133(1999)

Cross-references
Encyclopedic resources Wikidata; Q98136296
Entry history
Entry creation02-Jul-2020
Last entry update14-Aug-2025
Version number10