ID   XP1PD
AC   CVCL_L758
SY   GM02009; GM-2009; GM2009
DR   CLO; CLO_0032301
DR   BioSample; SAMN00807380
DR   Coriell; GM02009
DR   JCRB; KURB1028
DR   Wikidata; Q54837234
RX   CelloPub=CLPUB00447;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=3010096;
RX   PubMed=3030788;
RX   PubMed=9671271;
RX   PubMed=26184184;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Cys108Phe (c.323G>T); ClinVar=VCV000000993; Zygosity=Heterozygous (PubMed=9671271; PubMed=26184184).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Leu117Glufs*4 (c.349_353delCTTAT) (349del5); ClinVar=VCV000000994; Zygosity=Heterozygous (PubMed=9671271; PubMed=26184184).
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)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; 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=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; PMCID=PMC55283;
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=3010096; DOI=10.1016/0167-8817(86)90052-0;
RA   Barbis D.P., Schultz R.A., Friedberg E.C.;
RT   "Isolation and partial characterization of virus-transformed cell
RT   lines representing the A, G and variant complementation groups of
RT   xeroderma pigmentosum.";
RL   Mutat. Res. 165:175-184(1986).
//
RX   PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X;
RA   Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H.,
RA   Moses R.E.;
RT   "Transformation of DNA repair-deficient human diploid fibroblasts with
RT   a simian virus 40 plasmid.";
RL   Exp. Cell Res. 169:543-553(1987).
//
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.L., 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=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//