ID   XP7TUF
AC   CVCL_ZS20
SY   Xeroderma Pigmentosum 7 TUrku Finland
DR   Wikidata; Q98136136
RX   PubMed=18567921;
CC   Population: Caucasian; Finnish.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (PubMed=18567921).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=18567921; DOI=10.1093/brain/awn126;
RA   Anttinen A., Koulu L., Nikoskelainen E., Portin R., Kurki T.,
RA   Erkinjuntti M., Jaspers N.G.J., Raams A., Green M.H.L., Lehmann A.R.,
RA   Wing J.F., Arlett C.F., Marttila R.J.;
RT   "Neurological symptoms and natural course of xeroderma pigmentosum.";
RL   Brain 131:1979-1989(2008).
//