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Cellosaurus XPH27TA (CVCL_F224)

[Text version]
Cell line name XPH27TA
Synonyms Xeroderma Pigmentosum Heterozygote 27 Tel Aviv; GM16687; KR04049
Accession CVCL_F224
Resource Identification Initiative To cite this cell line use: XPH27TA (RRID:CVCL_F224)
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=Heterozygous (PubMed=11121128).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
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; GM16687
Cell line databases/resources CLO; CLO_0017466
Encyclopedic resources Wikidata; Q54848700
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number13