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Cellosaurus XPCS1LV (CVCL_F620)

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Cell line name XPCS1LV
Synonyms Xeroderma Pigmentosum/Cockayne Syndrome 2 LeuVen; GM13371
Accession CVCL_F620
Resource Identification Initiative To cite this cell line use: XPCS1LV (RRID:CVCL_F620)
Comments Population: Caucasian; Flemish.
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.Ser659Valfs*1 (c.1975delA) (2172delA); ClinVar=VCV001696064; Zygosity=Homozygous (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_F622 (XPCS1LV SV40)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Publications

PubMed=8317483; PMCID=PMC1682247
Wim Vermeulen, Jaak Jaeken, Nicolaas G.J. Jaspers, Dirk Bootsma, Jan Hendrik Jozef Hoeijmakers;
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

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=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
Cell line collections (Providers) Coriell; GM13371
Cell line databases/resources CLO; CLO_0012851
Biological sample resources BioSample; SAMN00802338
Encyclopedic resources Wikidata; Q54846485
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number16