ID   XP82DC
AC   CVCL_M312
SY   GM16181
DR   CLO; CLO_0019815
DR   Coriell; GM16181
DR   Wikidata; Q54848345
RX   PubMed=12060391;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gln16Ter (c.46C>T); Zygosity=Heterozygous (PubMed=12060391).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Val869Glyfs*11 (c.2606_2607delTG) (c.2604_2605TG[1]) (2801delTG); ClinVar=VCV001065165; 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)
SX   Female
AG   5-6Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 17
//
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).
//