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Cellosaurus XPCS2LV (CVCL_F619)

[Text version]
Cell line name XPCS2LV
Synonyms Xeroderma Pigmentosum/Cockayne Syndrome 2 LeuVen; GM13370
Accession CVCL_F619
Resource Identification Initiative To cite this cell line use: XPCS2LV (RRID:CVCL_F619)
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.Arg263Ter (c.787C>T) (984C>T); ClinVar=VCV000016570; Zygosity=Heterozygous (PubMed=9096355).
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ser659Valfs*1 (c.1975delA) (2172delA); ClinVar=VCV001696064; Zygosity=Heterozygous (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_F621 (XPCS2LV SV40)
Sex of cell Male
Age at sampling 1Y8M
Category Finite cell line
Publications

PubMed=8317483; PMCID=PMC1682247
Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.
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
Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G.
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
Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
J. Invest. Dermatol. 118:344-351(2002)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

Cross-references
Cell line collections (Providers) Coriell; GM13370
Cell line databases/resources CLO; CLO_0012846
Biological sample resources BioSample; SAMN00802336
Encyclopedic resources Wikidata; Q54846484
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number18