Cellosaurus cell line XP6TUF (CVCL

Cross-references
Cell line name	XP6TUF
Synonyms	Xeroderma Pigmentosum 6 TUrku Finland
Accession	CVCL_ZS17
Resource Identification Initiative	To cite this cell line use: XP6TUF (RRID:CVCL_ZS17)
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.Arg228Ter (c.682C>T); ClinVar=VCV000000995; 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)
Encyclopedic resources	Wikidata; Q98136064
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7