ID   XP39OS
AC   CVCL_3248
SY   Xeroderma Pigmentosum 39 OSaka
DR   JCRB; JCRB0326
DR   JCRB; KURB1013
DR   Wikidata; Q54994921
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2570806;
RX   PubMed=3814505;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (PubMed=1372102).
CC   Discontinued: JCRB; KURB1013; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0326
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 9,11
ST   D16S539: 10,12
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 20
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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).
//