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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
Hanoch Slor, Sima Batko, Sikandar G. Khan, Tama Sobe, Steffen Emmert, Arash Khadavi, Azriel Frumkin, David B. Busch, Roberta B. Albert, Kenneth H. Kraemer;
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