ID   XPH294BE LCL
AC   CVCL_X831
SY   Xeroderma Pigmentosum Heterozygote 294 BEthesda LCL; AG10035
DR   CLO; CLO_0021887
DR   Coriell; AG10035
DR   Wikidata; Q54743202
RX   CelloPub=CLPUB00597;
CC   Population: Native North American.
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 (Coriell=AG10035).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_X830 ! XPH294BE
SX   Female
AG   45Y4M
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 16
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//