ID   XP10OS
AC   CVCL_9S67
SY   Xeroderma Pigmentosum 10 OSaka
DR   JCRB; KURB1320
DR   Wikidata; Q54994864
RX   PubMed=832273;
RX   PubMed=1372102;
RX   PubMed=1702221;
CC   Population: Japanese.
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).
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   9Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 10
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RX   PubMed=832273;
RA   Takebe H., Miki Y., Kozuka T., Furuyama J.-i., Tanaka K., Sasaki M.S.,
RA   Fujiwara Y., Akiba H.;
RT   "DNA repair characteristics and skin cancers of xeroderma pigmentosum
RT   patients in Japan.";
RL   Cancer Res. 37:490-495(1977).
//
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).
//