Cellosaurus logo
expasy logo

Cellosaurus XP26PV (CVCL_ZN53)

[Text version]
Cell line name XP26PV
Synonyms Xeroderma Pigmentosum 26 PaVia
Accession CVCL_ZN53
Resource Identification Initiative To cite this cell line use: XP26PV (RRID:CVCL_ZN53)
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.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; 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 3Y
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
Encyclopedic resources Wikidata; Q98135604
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8