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Cellosaurus XPCS1RO (CVCL_ZP68)

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Cell line name XPCS1RO
Synonyms Xeroderma Pigmentosum/Cockayne Syndrome 1 ROtterdam; 94RD27
Accession CVCL_ZP68
Resource Identification Initiative To cite this cell line use: XPCS1RO (RRID:CVCL_ZP68)
Comments Population: Caucasian; Moroccan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gly926Profs (c.2775delT) (2972delT); ClinVar=VCV000016568; Zygosity=Unspecified (PubMed=9096355).
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 Children:
CVCL_ZV78 (XPCS1RO hTERT)
Sex of cell Male
Age at sampling 7M
Category Finite cell line
Publications

PubMed=9096355; DOI=10.1073/pnas.94.7.3116; PMCID=PMC20331
Thierry Nouspikel, Philippe Lalle, Steven Anthony Leadon, Priscilla K. Cooper, Stuart Gordon Clarkson;
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997)

PubMed=9716445; DOI=10.1006/excr.1998.4147
Aaron R. Ellison, Thierry Nouspikel, Nicolaas G.J. Jaspers, Stuart Gordon Clarkson, Dieter C. Gruenert;
Complementation of transformed fibroblasts from patients with combined xeroderma pigmentosum-Cockayne syndrome.
Exp. Cell Res. 243:22-28(1998)

PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x
Philippe Lalle, Thierry Nouspikel, Angelos Constantinou, Fabrizio Thorel, Stuart Gordon Clarkson;
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
J. Invest. Dermatol. 118:344-351(2002)

Cross-references
Encyclopedic resources Wikidata; Q98136284
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8