ID   AS553
AC   CVCL_ZR71
DR   Wikidata; Q98125497
RX   PubMed=19934020;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ile456del (c.1361_1363TCA[2]) (1439_1441delTCA); ClinVar=VCV000620626; Zygosity=Heterozygous (PubMed=19934020).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=19934020).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=19934020; DOI=10.1084/jem.20091892; PMCID=PMC2806454;
RA   Ueda T., Compe E., Catez P., Kraemer K.H., Egly J.-M.;
RT   "Both XPD alleles contribute to the phenotype of compound heterozygote
RT   xeroderma pigmentosum patients.";
RL   J. Exp. Med. 206:3031-3046(2009).
//