ID   XP329BE
AC   CVCL_ZP74
SY   Xeroderma Pigmentosum 329 BEthesda; JA1356
DR   Wikidata; Q98135690
RX   PubMed=18955168;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Homozygous (PubMed=18955168).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007; PMCID=PMC2684809;
RA   Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J.,
RA   Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C.,
RA   Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.;
RT   "XPC initiation codon mutation in xeroderma pigmentosum patients with
RT   and without neurological symptoms.";
RL   DNA Repair 8:114-125(2009).
//