ID   XP3KR
AC   CVCL_L777
SY   GM05292; GM5292
DR   CLO; CLO_0024952
DR   Coriell; GM05292
DR   JCRB; JCRB3044
DR   JCRB; KURB1031
DR   Wikidata; Q54838957
RX   CelloPub=CLPUB00447;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=7905727;
RX   PubMed=9671271;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=1372102; PubMed=7905727; PubMed=9671271).
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Heterozygous (PubMed=1372102; PubMed=7905727; PubMed=9671271).
CC   Donor information: Established from monozygotic twin of XP4KR (Cellosaurus=CVCL_ZQ22).
CC   Discontinued: JCRB; KURB1031; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 8
ST   D16S539: 9
ST   D5S818: 13
ST   D7S820: 9,12
ST   TH01: 6
ST   TPOX: 8,11
ST   vWA: 19
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: 29-06-23; Version: 20
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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).
//
RX   PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009;
RA   Nishigori C., Moriwaki S., Takebe H., Tanaka T., Imamura S.;
RT   "Gene alterations and clinical characteristics of xeroderma
RT   pigmentosum group A patients in Japan.";
RL   Arch. Dermatol. 130:191-197(1994).
//
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).
//