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Cellosaurus XP12TA (CVCL_7652)

[Text version]
Cell line name XP12TA
Synonyms Xeroderma Pigmentosum 12 Tel Aviv; GM16684
Accession CVCL_7652
Resource Identification Initiative To cite this cell line use: XP12TA (RRID:CVCL_7652)
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=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 Male
Age at sampling 5Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM16684
Cell line databases/resources CLO; CLO_0017452
Encyclopedic resources Wikidata; Q54848696
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number15