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Cellosaurus XPHM663VI (CVCL_ZR39)

[Text version]
Cell line name XPHM663VI
Synonyms Xeroderma Pigmentosum Heterozygote Mother 663 VIllejuif
Accession CVCL_ZR39
Resource Identification Initiative To cite this cell line use: XPHM663VI (RRID:CVCL_ZR39)
Comments Population: Moroccan.
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]) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (from familial inference of XP664VI; XP665VI).
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 Adult
Category Finite cell line
Publications

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; Q98136341
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8