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Cellosaurus XP64BR (CVCL_ZV21)

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Cell line name XP64BR
Synonyms Xeroderma Pigmentosum 64 BRighton
Accession CVCL_ZV21
Resource Identification Initiative To cite this cell line use: XP64BR (RRID:CVCL_ZV21)
Comments 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.Tyr146Ter (c.437dupA); Zygosity=Homozygous (PubMed=26884178).
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 Sex unspecified
Age at sampling 55Y
Category Finite cell line
Publications

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana Maria Susana Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan Robert Lehmann; Show fewer authors
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)

Cross-references
Encyclopedic resources Wikidata; Q98136018
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7