ID   XP35OS
AC   CVCL_3247
SY   Xeroderma Pigmentosum 35 OSaka
DR   JCRB; JCRB0304
DR   JCRB; KURB1164
DR   JCRB; KURB1344
DR   JCRB; KURB1345
DR   Wikidata; Q54994919
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2570806;
RX   PubMed=3814505;
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.
ST   Source(s): JCRB=JCRB0304
ST   Amelogenin: X
ST   CSF1PO: 9,12
ST   D13S317: 9,10
ST   D16S539: 9,10
ST   D5S818: 11,13
ST   D7S820: 10,11
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 14,17
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
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=2570806; DOI=10.1111/1523-1747.ep12284030;
RA   Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M.,
RA   Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M.;
RT   "Somatic mosaicism for DNA repair capacity in fibroblasts derived from
RT   a group A xeroderma pigmentosum patient.";
RL   J. Invest. Dermatol. 93:460-465(1989).
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RX   PubMed=3814505; DOI=10.1111/j.1365-2133.1987.tb05796.x;
RA   Sato K., Watatani M., Ikenaga M., Kozuka T., Kitano Y., Yoshikawa K.,
RA   Mimaki T., Abe J., Sugita T.;
RT   "Sensitivity to UV radiation of fibroblasts from a Japanese group A
RT   xeroderma pigmentosum patient with mild neurological abnormalities.";
RL   Br. J. Dermatol. 116:101-108(1987).
//