ID   XP35BE
AC   CVCL_M323
SY   Xeroderma Pigmentosum 35 BEthesda; GM16957
DR   CLO; CLO_0018072
DR   Coriell; GM16957
DR   Wikidata; Q54848816
RX   PubMed=18470933;
RX   PubMed=19934020;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ile199Profs*52 (c.594_595insCCCCCCAG) (199insPP); Zygosity=Heterozygous (PubMed=18470933; PubMed=19934020).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (PubMed=18470933; 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)
OI   CVCL_M322 ! XP35BE LCL
SX   Female
AG   19Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 14
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RX   PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783;
RA   Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G.,
RA   Nadem C., DiGiovanna J.J., Kraemer K.H.;
RT   "Persistence of repair proteins at unrepaired DNA damage distinguishes
RT   diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma
RT   pigmentosum vs. non-cancer-prone trichothiodystrophy.";
RL   Hum. Mutat. 29:1194-1208(2008).
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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).
//