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Cellosaurus XP1TUF (CVCL_ZS16)

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Cell line name XP1TUF
Synonyms Xeroderma Pigmentosum 1 TUrku Finland
Accession CVCL_ZS16
Resource Identification Initiative To cite this cell line use: XP1TUF (RRID:CVCL_ZS16)
Comments Population: Caucasian; Finnish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Gly95Arg (c.283G>A); Zygosity=Homozygous (PubMed=18567921).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=18567921; DOI=10.1093/brain/awn126
Anu Anttinen, Leena Koulu, Eeva Nikoskelainen, Raija Portin, Timo Kurki, Matti Erkinjuntti, Nicolaas G.J. Jaspers, Anja Raams, Michael H.L. Green, Alan Robert Lehmann, Jonathan F. Wing ...Show all 13 authors... , Colin Francis Arlett, Reijo J. Marttila; Show fewer authors
Neurological symptoms and natural course of xeroderma pigmentosum.
Brain 131:1979-1989(2008)

Cross-references
Encyclopedic resources Wikidata; Q98135494
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7