ID   XP2SA
AC   CVCL_3243
SY   Xeroderma Pigmentosum 2 SApporo
DR   JCRB; JCRB0305
DR   JCRB; KURB1123
DR   Wikidata; Q54994914
RX   PubMed=1702221;
RX   PubMed=7830260;
RX   PubMed=10385124;
RX   PubMed=10771487;
RX   PubMed=29892436;
CC   Population: Japanese.
CC   Virology: Infected with human parvovirus B19 (PubMed=29892436).
CC   Doubling time: 24 hours (JCRB=JCRB0305).
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Glu306Ter (c.916G>T); ClinVar=VCV000005887; Zygosity=Unspecified (PubMed=10385124).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0305
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 8,9
ST   D16S539: 9
ST   D5S818: 11,12
ST   D7S820: 11
ST   TH01: 6
ST   TPOX: 11
ST   vWA: 18
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 19
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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=7830260; DOI=10.1269/jrr.35.168;
RA   Fujikawa K., Ayaki H., Ishizaki K., Takatera H., Matsuo S., Iizuka H.,
RA   Koizumi H., Ikenaga M.;
RT   "Assignment of six patients with xeroderma pigmentosum in Hokkaido
RT   area to a variant form.";
RL   J. Radiat. Res. 35:168-178(1994).
//
RX   PubMed=10385124; DOI=10.1038/21447;
RA   Masutani C., Kusumoto R., Yamada A., Dohmae N., Yokoi M., Yuasa M.,
RA   Araki M., Iwai S., Takio K., Hanaoka F.;
RT   "The XPV (xeroderma pigmentosum variant) gene encodes human DNA
RT   polymerase eta.";
RL   Nature 399:700-704(1999).
//
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=29892436; DOI=10.1098/rsos.172472; PMCID=PMC5990783;
RA   Shioda S., Kasai F., Watanabe K., Kawakami K., Ohtani A., Iemura M.,
RA   Ozawa M., Arakawa A., Hirayama N., Kawaguchi E., Tano T., Miyata S.,
RA   Satoh M., Shimizu N., Kohara A.;
RT   "Screening for 15 pathogenic viruses in human cell lines registered at
RT   the JCRB Cell Bank: characterization of in vitro human cells by viral
RT   infection.";
RL   R. Soc. Open Sci. 5:172472-172472(2018).
//