Cellosaurus cell line XP7NE (CVCL

Cellosaurus XP7NE (CVCL_ZN52)

Cross-references
Cell line name	XP7NE
Synonyms	Xeroderma Pigmentosum 7 NEwscastle
Accession	CVCL_ZN52
Resource Identification Initiative	To cite this cell line use: XP7NE (RRID:CVCL_ZN52)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Pro379Ser (c.1135C>T); ClinVar=VCV000134148; Zygosity=Heterozygous (PubMed=20221251).
Disease	Xeroderma pigmentosum, complementation group F (NCIt: C3968) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_ZS42 ! XP7NE LCL
Sex of cell	Male
Age at sampling	28Y
Category	Finite cell line
Publications	PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V. A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C. Mutat. Res. 273:127-135(1992) 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) PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669 Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. PLoS Genet. 6:E1000871-E1000871(2010)
Encyclopedic resources	Wikidata; Q98136121
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7