ID   XP19BE
AC   CVCL_H143
SY   Xeroderma Pigmentosum 19 BEthesda; XP1WI; GM01630; GM-1630; GM 1630; GM1630
DR   CLO; CLO_0031500
DR   BioSample; SAMN00806993
DR   Coriell; GM01630
DR   JCRB; KURB1027
DR   Wikidata; Q54836965
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2065254;
RX   PubMed=6947227;
RX   PubMed=9671271;
RX   PubMed=15572672;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Homozygous; Note=Also produces mis-splicing (PubMed=9671271; Coriell=GM01630).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H144 ! XP19BE LCL
SX   Male
AG   3Y6M
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 21
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M;
RA   Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y.,
RA   Kondo S., Okada Y.;
RT   "Three nonsense mutations responsible for group A xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 273:193-202(1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=2065254; DOI=10.1093/brain/114.3.1335;
RA   Robbins J.H., Brumback R.A., Mendiones M., Barrett S.F., Carl J.R.,
RA   Cho S., Denckla M.B., Ganges M.B., Gerber L.H., Guthrie R.A., Meer J.,
RA   Moshell A.N., Polinsky R.J., Ravin P.D., Sonies B.C., Tarone R.E.;
RT   "Neurological disease in xeroderma pigmentosum. Documentation of a
RT   late onset type of the juvenile onset form.";
RL   Brain 114:1335-1361(1991).
//
RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236;
RA   Miskin R., Ben-Ishai R.;
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E.;
RT   "Distribution of mutations in the human xeroderma pigmentosum group A
RT   gene and their relationships to the functional regions of the DNA
RT   damage recognition protein.";
RL   Hum. Mutat. 12:103-113(1998).
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004;
RA   Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T.,
RA   Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K.,
RA   Wood R.D., Clarkson S.G.;
RT   "Definition of a short region of XPG necessary for TFIIH interaction
RT   and stable recruitment to sites of UV damage.";
RL   Mol. Cell. Biol. 24:10670-10680(2004).
//