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Cellosaurus XP13PV (CVCL_RU36)

[Text version]
Cell line name XP13PV
Synonyms Xeroderma Pigmentosum 13 PaVia
Accession CVCL_RU36
Resource Identification Initiative To cite this cell line use: XP13PV (RRID:CVCL_RU36)
Comments From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
Population: Caucasian.
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=Heterozygous (PubMed=10766188).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Trp690Ser (c.2069G>C); Zygosity=Heterozygous (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 14Y
Category Finite cell line
Publications

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_0009657
CLDB; cl4751
Encyclopedic resources Wikidata; Q54994883
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10