ID   XP31BE LCL
AC   CVCL_M307
SY   Xeroderma Pigmentosum 31 BEthesda LCL; GM13154
DR   CLO; CLO_0013627
DR   BioSample; SAMN00802151
DR   Coriell; GM13154
DR   Wikidata; Q54846352
RX   PubMed=18368133;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; c.764+1G>C; Zygosity=Hemizygous; Note=Splice donor mutation (from autologous cell line XP31BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M308 ! XP31BE
SX   Male
AG   47Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 17
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RX   PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952;
RA   Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M.,
RA   Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J.,
RA   Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J.,
RA   Azizi E., Woodgate R., Schneider T.D., Kraemer K.H.;
RT   "Xeroderma pigmentosum-variant patients from America, Europe, and
RT   Asia.";
RL   J. Invest. Dermatol. 128:2055-2068(2008).
//