Cellosaurus cell line XP8TUF (CVCL

Cross-references
Cell line name	XP8TUF
Synonyms	Xeroderma Pigmentosum 8 TUrku Finland
Accession	CVCL_ZS18
Resource Identification Initiative	To cite this cell line use: XP8TUF (RRID:CVCL_ZS18)
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 Anttinen A., Koulu L., Nikoskelainen E., Portin R., Kurki T., Erkinjuntti M., Jaspers N.G.J., Raams A., Green M.H.L., Lehmann A.R., Wing J.F., Arlett C.F., Marttila R.J. Neurological symptoms and natural course of xeroderma pigmentosum. Brain 131:1979-1989(2008)
Encyclopedic resources	Wikidata; Q98136208
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7