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Cellosaurus XP5PV (CVCL_RU47)

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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
Vesna Rapic-Otrin, Isao Kuraoka, Tiziana Nardo, Mary McLenigan, Andre P.M. Eker, Miria Stefanini, Arthur S. Levine, Richard Dean Wood;
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
Franz Chavanne, Bernard C. Broughton, Daniela Pietra, Tiziana Nardo, Alison Browitt, Alan Robert Lehmann, Miria Stefanini;
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