Cellosaurus cell line XP52RO (CVCL

Cross-references
Cell line name	XP52RO
Synonyms	Xeroderma Pigmentosum 52 ROtterdam
Accession	CVCL_ZQ08
Resource Identification Initiative	To cite this cell line use: XP52RO (RRID:CVCL_ZQ08)
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:9181; POLH; Simple; p.Arg356Ter (c.1066C>T); ClinVar=VCV001459259; Zygosity=Homozygous (PubMed=11773631).
Disease	Xeroderma pigmentosum variant type (NCIt: C141367) Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	56Y
Category	Finite cell line
Publications	PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388 Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J., Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F., Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A., Lehmann A.R. Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002)
Encyclopedic resources	Wikidata; Q98135920
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8