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Cellosaurus XPHM663VI (CVCL_ZR39)

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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
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
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