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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; 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
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)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
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 update19-Dec-2024
Version number16