ID   XPHM12BE LCL
AC   CVCL_1F22
SY   Xeroderma Pigmentosum Heterozygote Male 12 BEthesda LCL; GM05569; GM 5569; GM05569A
DR   CLO; CLO_0024549
DR   Coriell; GM05569
DR   Wikidata; Q54841877
RX   CelloPub=CLPUB00447;
RX   PubMed=6096450;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM05569).
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_1F21 ! XPHM12BE
SX   Male
AG   47Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
//