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Cellosaurus XP5PV (CVCL_RU47)

[Text version]
Cell line name XP5PV
Synonyms Xeroderma Pigmentosum 5 PaVia
Accession CVCL_RU47
Resource Identification Initiative To cite this cell line use: XP5PV (RRID:CVCL_RU47)
Comments From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Ala109Argfs*5 (c.321_322insAA); Zygosity=Homozygous (PubMed=10766188).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Finite cell line
Publications

PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D.
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

PubMed=10766188
Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A., Lehmann A.R., Stefanini M.
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Cancer Res. 60:1974-1982(2000)

Cross-references
Cell line databases/resources CLO; CLO_0009669
CLDB; cl4762
Encyclopedic resources Wikidata; Q54994909
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9