ID   XP24BE
AC   CVCL_M302
SY   Xeroderma Pigmentosum 24 BEthesda; GM11638
DR   CLO; CLO_0021324
DR   Coriell; GM11638
DR   Wikidata; Q54845210
RX   PubMed=18955168;
CC   Population: Caucasian; Hungarian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.622-2A>G (IVS5.1-2A>G); ClinVar=VCV000550100; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM11638).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg155Ter (c.463C>T); ClinVar=VCV000496268; Zygosity=Heterozygous (Coriell=GM11638).
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)
OI   CVCL_M301 ! XP24BE LCL
SX   Female
AG   20Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 18
//
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).
//