ID   XP86BE
AC   CVCL_M313
SY   Xeroderma Pigmentosum 86 BEthesda; GM16370
DR   CLO; CLO_0019419
DR   Coriell; GM16370
DR   Wikidata; Q54848482
RX   CelloPub=CLPUB00563;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS2+1G>A; Zygosity=Homozygous; Note=Splice donor mutation (CelloPub=CLPUB00563).
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_M324 ! XP86BE LCL
SX   Female
AG   47Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 14
//
RX   CelloPub=CLPUB00563;
RA   Ueda T., Khan S.G., Emmert S., Shahlavi T., Busch D.B., Schneider T.D.,
RA   Kraemer K.H.;
RT   "A G to A change at the splice donor site of intron 2 in the xeroderma
RT   pigmentosum group C (XPC) gene alters the efficiency of premRNA
RT   splicing.";
RL   J. Invest. Dermatol. 117:515-515(2001).
//