Cellosaurus logo
expasy logo

Cellosaurus XPH26TA (CVCL_F223)

[Text version]
Cell line name XPH26TA
Synonyms Xeroderma Pigmentosum Heterozygote 26 Tel Aviv; GM16686; KR04048
Accession CVCL_F223
Resource Identification Initiative To cite this cell line use: XPH26TA (RRID:CVCL_F223)
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; HGNC:12816; XPC; Simple; p.Tyr189Serfs*10 (c.564_565AT[1]) (del AT 669-670); ClinVar=VCV000000258; Zygosity=Heterozygous (PubMed=11121128).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 30Y
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; GM16686
Cell line databases/resources CLO; CLO_0017454
Encyclopedic resources Wikidata; Q54848698
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number14