ID   XP377BE
AC   CVCL_ZS41
SY   Xeroderma Pigmentosum 377 BEthesda
DR   Wikidata; Q98135729
RX   CelloPub=CLPUB00565;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS6-13_-21del9; Zygosity=Homozygous (CelloPub=CLPUB00565).
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   63Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   CelloPub=CLPUB00565;
RA   Khan S.G., Oh K.-S., Inui H., Emmert S., Tamura D., DiGiovanna J.J.,
RA   Shahlavi T., Baker C.C., Schneider T.D., Kraemer K.H.;
RT   "Impaired lariat-loop formation causing abnormal XPC pre-mRNA splicing
RT   resulted in xeroderma pigmentosum.";
RL   J. Invest. Dermatol. 129 Suppl. 1:S28-S28(2009).
//