ID   XPEMB-1
AC   CVCL_3252
SY   XPEMB1; Xeroderma Pigmentosum EMBryo-1
DR   GEO; GSM1338615
DR   JCRB; JCRB0325
DR   Wikidata; Q54994981
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=27197874;
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221; PubMed=27197874).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0325
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 11,13
ST   D16S539: 11,12
ST   D5S818: 11,12
ST   D7S820: 11,14
ST   TH01: 7,9
ST   TPOX: 8,9
ST   vWA: 18
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Fetus
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 19
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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).
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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=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825;
RA   Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M.,
RA   Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S.,
RA   Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S.,
RA   Hata K., Toyoda M., Umezawa A.;
RT   "Distinctive features of single nucleotide alterations in induced
RT   pluripotent stem cells with different types of DNA repair deficiency
RT   disorders.";
RL   Sci. Rep. 6:26342-26342(2016).
//