ID   XP15BR
AC   CVCL_ZN28
SY   Xeroderma Pigmentosum 15 BRighton
DR   Wikidata; Q98135330
RX   PubMed=16714754;
RX   PubMed=18079351;
RX   PubMed=19179371;
RX   PubMed=21566739;
RX   PubMed=22466610;
RX   PubMed=26743599;
RX   PubMed=26884178;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Val90Lysfs*15 (c.266_267dupAA); ClinVar=VCV000524023; Zygosity=Homozygous (PubMed=26743599; PubMed=26884178).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   22Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=16714754; DOI=10.1259/bjr/83726649;
RA   Arlett C.F., Plowman P.N., Rogers P.B., Parris C.N., Abbaszadeh F.,
RA   Green M.H.L., McMillan T.J., Bush C., Foray N., Lehmann A.R.;
RT   "Clinical and cellular ionizing radiation sensitivity in a patient
RT   with xeroderma pigmentosum.";
RL   Br. J. Radiol. 79:510-517(2006).
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RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
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RX   PubMed=19179371; DOI=10.1093/nar/gkp023; PMCID=PMC2651789;
RA   Limsirichaikul S., Niimi A., Fawcett H., Lehmann A.R., Yamashita S.,
RA   Ogi T.;
RT   "A rapid non-radioactive technique for measurement of repair synthesis
RT   in primary human fibroblasts by incorporation of ethynyl deoxyuridine
RT   (EdU).";
RL   Nucleic Acids Res. 37:e31.1-e31.10(2009).
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RX   PubMed=21566739; PMCID=PMC3022359;
RA   Gremmel T., Wild S., Schuller W., Kurten V., Dietz K., Krutmann J.,
RA   Berneburg M.;
RT   "Six genes associated with the clinical phenotypes of individuals with
RT   deficient and proficient DNA repair.";
RL   Transl. Oncogenomics 3:1-13(2008).
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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).
//
RX   PubMed=26743599; DOI=10.1016/j.jid.2015.12.031;
RA   Sethi M., Haque S., Fawcett H., Wing J.F., Chandler N., Mohammed S.,
RA   Frayling I.M., Norris P.G., McGibbon D., Young A.R., Sarkany R.P.E.,
RA   Lehmann A.R., Fassihi H.;
RT   "A distinct genotype of XP complementation group A: surprisingly mild
RT   phenotype highly prevalent in Northern India/Pakistan/Afghanistan.";
RL   J. Invest. Dermatol. 136:869-872(2016).
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RX   PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618;
RA   Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S.,
RA   Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I.,
RA   Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D.,
RA   Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R.,
RA   Sarkany R.P.E., Lehmann A.R.;
RT   "Deep phenotyping of 89 xeroderma pigmentosum patients reveals
RT   unexpected heterogeneity dependent on the precise molecular defect.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016).
//