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Cellosaurus XP164BE (CVCL_ZP00)

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Cell line name XP164BE
Synonyms Xeroderma Pigmentosum 164 BEthesda
Accession CVCL_ZP00
Resource Identification Initiative To cite this cell line use: XP164BE (RRID:CVCL_ZP00)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9181; POLH; Simple; p.Asp360Glyfs*32 (c.1078dupG) (c.1078_1079dupG); ClinVar=VCV001696282; Zygosity=Homozygous (PubMed=18368133).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 52Y
Category Finite cell line
Publications

PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952
Hiroki Inui, Kyu-Seon Oh, Carine Nadem, Takahiro Ueda, Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Steffen Emmert, Hanoch Slor, David B. Busch, Carl C. Baker ...Show all 22 authors... , John Joseph DiGiovanna, Deborah Tamura, Cornelia S. Seitz, Alexei Gratchev, Wen-Hao Wu, Kee Yang Chung, Hye Jin Chung, Esther Azizi, Roger Woodgate, Thomas D. Schneider, Kenneth H. Kraemer; Show fewer authors
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
J. Invest. Dermatol. 128:2055-2068(2008)

Cross-references
Encyclopedic resources Wikidata; Q98135340
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8