ID   XP1CA
AC   CVCL_L767
SY   Xeroderma Pigmentosum 1 CAiro; XP1EG; GM02990; GM2990; GM 2990
DR   CLO; CLO_0012589
DR   BioSample; SAMN00808198
DR   Coriell; GM02990
DR   Wikidata; Q54837790
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2897722;
RX   PubMed=6442144;
RX   PubMed=6684957;
RX   PubMed=6947227;
RX   PubMed=7252263;
RX   PubMed=9671271;
CC   Population: Egyptian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Thr125Ilefs*15 (c.374delC); ClinVar=VCV000267186; Zygosity=Homozygous (PubMed=9671271; Coriell=GM02990).
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   8Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 19
//
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).
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RX   PubMed=2897722; DOI=10.1002/tcm.1770080104;
RA   Nagasawa H., Burke M.J., Little F.F., McCone E.F., Chan G.L.,
RA   Little J.B.;
RT   "Multiple abnormalities in the ultraviolet light response of cultured
RT   fibroblasts derived from patients with the basal cell nevus syndrome.";
RL   Teratog. Carcinog. Mutagen. 8:25-33(1988).
//
RX   PubMed=6442144; DOI=10.1007/978-1-4684-4892-4_20;
RA   Nagasawa H., Little F.F., Burke M.J., McCone E.F., Targovnik H.S.,
RA   Chan G.L., Little J.B.;
RT   "Study of basal cell nevus syndrome fibroblasts after treatment with
RT   DNA-damaging agents.";
RL   Basic Life Sci. 29:775-785(1984).
//
RX   PubMed=6684957; DOI=10.1007/BF01172877;
RA   Kuhnlein U., Tsang S.S., Lokken O., Tong S., Twa D.;
RT   "Cell lines from xeroderma pigmentosum complementation group A lack a
RT   single-stranded-DNA-binding activity.";
RL   Biosci. Rep. 3:667-674(1983).
//
RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013;
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).
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RX   PubMed=7252263; DOI=10.1111/1523-1747.ep12479271;
RA   Cleaver J.E., Zelle B., Hashem N., El-Hefnawi M.H., German J.L. 3rd;
RT   "Xeroderma pigmentosum patients from Egypt: II. Preliminary
RT   correlations of epidemiology, clinical symptoms and molecular
RT   biology.";
RL   J. Invest. Dermatol. 77:96-101(1981).
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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.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).
//