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Cellosaurus XP25TA (CVCL_F222)

[Text version]
Cell line name XP25TA
Synonyms GM16685; KR04047
Accession CVCL_F222
Resource Identification Initiative To cite this cell line use: XP25TA (RRID:CVCL_F222)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12816; XPC; Simple; p.Tyr189Serfs*10 (c.564_565AT[1]) (del AT 669-670); ClinVar=VCV000000258; Zygosity=Homozygous (PubMed=11121128).
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 3Y
Category Finite cell line
Publications

PubMed=11121128; DOI=10.1046/j.1523-1747.2000.00190.x
Slor H., Batko S., Khan S.G., Sobe T., Emmert S., Khadavi A., Frumkin A., Busch D.B., Albert R.B., Kraemer K.H.
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
J. Invest. Dermatol. 115:974-980(2000)

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
Cell line collections (Providers) Coriell; GM16685
Cell line databases/resources CLO; CLO_0017453
Encyclopedic resources Wikidata; Q54848697
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number15