ID   XP65BE
AC   CVCL_M316
SY   Xeroderma Pigmentosum 65 BEthesda; GM16398
DR   CLO; CLO_0019512
DR   Coriell; GM16398
DR   Wikidata; Q54848508
RX   PubMed=12060391;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gln136Ter (c.406C>T) (C603T); ClinVar=VCV000016578; Zygosity=Heterozygous (PubMed=12060391).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala874Thr (c.2620G>A) (G2817A); ClinVar=VCV000016577; Zygosity=Heterozygous (PubMed=12060391).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M310 ! XP65BE LCL
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 15
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RX   PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x;
RA   Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M.,
RA   Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M.,
RA   Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T.,
RA   Cleaver J.E., Kraemer K.H.;
RT   "Relationship of neurologic degeneration to genotype in three
RT   xeroderma pigmentosum group G patients.";
RL   J. Invest. Dermatol. 118:972-982(2002).
//