ID   XP4JO
AC   CVCL_L764
SY   Xeroderma Pigmentosum 4 JOhannesburg; GM02090; GM-2090; GM2090; GM17343
DR   CLO; CLO_0013734
DR   CLO; CLO_0031826
DR   BioSample; SAMN00807474
DR   Coriell; GM02090
DR   Coriell; GM17343
DR   Wikidata; Q54837294
RX   CelloPub=CLPUB00447;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=6492896;
RX   PubMed=9671271;
CC   Part of: Human variation panel.
CC   Population: African; Zulu.
CC   Senescence: Senesces at 24 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Arg130Lys (c.389G>A); ClinVar=VCV000551153; Zygosity=Homozygous; Note=Affects splicing (PubMed=9671271; Coriell=GM02090).
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   Male
AG   16Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 22
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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   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).
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RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(1984).
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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).
//