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Cellosaurus XP3GO (CVCL_ZP02)

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Cell line name XP3GO
Accession CVCL_ZP02
Resource Identification Initiative To cite this cell line use: XP3GO (RRID:CVCL_ZP02)
Comments Population: Caucasian; German.
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.Val221Profs*2 (c.661_764del104) (Ex6del); 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 Male
Age at sampling 38Y
Category Finite cell line
Publications

DOI=10.1055/s-2003-822252
Steffen Emmert, Hiroki Inui, Cornelia S. Seitz, Alexei Gratchev, Karolin Zachmann, Sergij Goerdt, Christine Neumann, Kenneth H. Kraemer;
Phenotype-genotype correlation of a xeroderma pigmentosum variant patient.
Aktuelle Derm. 29:V29-V29(2003)

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; Q98135762
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7