ID   XP1UTSW
AC   CVCL_ZP83
SY   S05-5125
DR   Wikidata; Q98135496
RX   PubMed=17079196;
RX   PubMed=17084680;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.622-2A>C (IVS5.1-2A>C); ClinVar=VCV000190209; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=17079196; PubMed=17084680).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gly810Alafs*9 (c.2429_2441del13); Zygosity=Heterozygous (PubMed=17079196; PubMed=17084680).
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   Female
AG   19Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=17079196; DOI=10.1016/j.dnarep.2006.09.008;
RA   Rivera-Begeman A., McDaniel L.D., Schultz R.A., Friedberg E.C.;
RT   "A novel XPC pathogenic variant detected in archival material from a
RT   patient diagnosed with xeroderma pigmentosum: a case report and review
RT   of the genetic variants reported in XPC.";
RL   DNA Repair 6:100-114(2007).
//
RX   PubMed=17084680; DOI=10.1016/j.dnarep.2006.09.009;
RA   McDaniel L.D., Rivera-Begeman A., Doughty A.T.B., Schultz R.A.,
RA   Friedberg E.C.;
RT   "Validation of XP-C pathogenic variations in archival material from a
RT   live XP patient.";
RL   DNA Repair 6:115-120(2007).
//