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Cellosaurus XP16VI (CVCL_ZR32)

[Text version]
Cell line name XP16VI
Synonyms Xeroderma Pigmentosum 16 VIllejuif
Accession CVCL_ZR32
Resource Identification Initiative To cite this cell line use: XP16VI (RRID:CVCL_ZR32)
Comments Population: Algerian.
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=16081512).
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 Female
Age at sampling 19Y
Category Finite cell line
Publications

PubMed=9415314; DOI=10.1038/sj.gt.3300495
Zeng L., Quilliet X., Chevallier-Lagente O., Eveno E., Sarasin A., Mezzina M.
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
Gene Ther. 4:1077-1084(1997)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H.
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)

Cross-references
Encyclopedic resources Wikidata; Q98135360
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8