ID   XPHF12BE LCL
AC   CVCL_1F20
SY   Xeroderma Pigmentosum Heterozygote Female 12 BEthesda LCL; GM05511; GM 5511; GM05511B
DR   CLO; CLO_0024799
DR   Coriell; GM05511
DR   Wikidata; Q54839031
RX   CelloPub=CLPUB00447;
RX   PubMed=6096450;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM05511).
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_1F19 ! XPHF12BE
SX   Female
AG   44Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 30-01-24; 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).
//