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Cellosaurus XPCS2BASV (CVCL_ZP38)

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Cell line name XPCS2BASV
Accession CVCL_ZP38
Resource Identification Initiative To cite this cell line use: XPCS2BASV (RRID:CVCL_ZP38)
Comments 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_V272 (XPCS2BA)
Children:
CVCL_ZP40 (XPCS2BASV pTTD6VI-transfected Cl-14)CVCL_ZP41 (XPCS2BASV pTTD6VI-transfected Cl-19)CVCL_ZP39 (XPCS2BASV pTTD6VI-transfected Cl-5)
Sex of cell Male
Age at sampling 36Y
Category Transformed cell line
Publications

PubMed=9415314; DOI=10.1038/sj.gt.3300495
Lin Zeng, Xavier Quilliet, Odile Chevallier-Lagente, Eric Eveno, Alain Sarasin, Mauro Mezzina;
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
Gene Ther. 4:1077-1084(1997)

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; Q98136289
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8