ID   XP24KO
AC   CVCL_F514
SY   Xeroderma Pigmentosum 24 KObe
DR   JCRB; JCRB3012
DR   JCRB; KURB1081
DR   Wikidata; Q54994906
RX   PubMed=1376435;
RX   PubMed=1702221;
RX   PubMed=3341805;
RX   PubMed=3922833;
RX   PubMed=4011712;
RX   PubMed=10771487;
RX   PubMed=22466610;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Homozygous (PubMed=22466610).
CC   Omics: Genomics; Whole exome sequencing.
CC   Discontinued: JCRB; KURB1081; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173107; UV-sensitive syndrome 3
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 10-04-25; Version: 15
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RX   PubMed=1376435; DOI=10.1016/0921-8777(92)90049-9;
RA   Keeney S.N., Wein H., Linn S.M.;
RT   "Biochemical heterogeneity in xeroderma pigmentosum complementation
RT   group E.";
RL   Mutat. Res. 273:49-56(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=3341805; DOI=10.1001/archderm.1988.01670020074021;
RA   Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.;
RT   "No apparent neurologic defect in a patient with xeroderma pigmentosum
RT   complementation group D.";
RL   Arch. Dermatol. 124:256-260(1988).
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RX   PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162;
RA   Fujiwara Y., Satoh Y.;
RT   "Assignment of two Japanese xeroderma pigmentosum patients to
RT   complementation group D and their characteristics.";
RL   Jpn. J. Cancer Res. 76:162-166(1985).
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RX   PubMed=4011712; DOI=10.1111/j.1751-1097.1985.tb03538.x;
RA   Fujiwara Y., Uehara Y., Ichihashi M., Nishioka K.;
RT   "Xeroderma pigmentosum complementation group F: more assignments and
RT   repair characteristics.";
RL   Photochem. Photobiol. 41:629-634(1985).
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RX   PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x;
RA   Itoh T., Linn S.M., Ono T., Yamaizumi M.;
RT   "Reinvestigation of the classification of five cell strains of
RT   xeroderma pigmentosum group E with reclassification of three of
RT   them.";
RL   J. Invest. Dermatol. 114:1022-1029(2000).
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RX   PubMed=22466610; DOI=10.1038/ng.2229;
RA   Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M.,
RA   Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M.,
RA   Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H.,
RA   Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R.,
RA   Yoshiura K.-i., Ogi T.;
RT   "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA
RT   polymerase IIo processing in transcription-coupled nucleotide-excision
RT   repair.";
RL   Nat. Genet. 44:586-592(2012).
//