ID   TTD1BR
AC   CVCL_W046
SY   TrichoThioDystrophy 1 BRighton
DR   Wikidata; Q54973259
RX   PubMed=1372096;
RX   PubMed=7671243;
RX   PubMed=8213812;
RX   PubMed=11416159;
RX   PubMed=15220921;
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (PubMed=15220921).
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (PubMed=15220921).
CC   Misspelling: TTD1BR3; PubMed=7671243.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=11416159
ST   Amelogenin: X,Y
ST   D18S51: 13,21
ST   D21S11: 30,31
ST   D8S1179: 11,14
ST   FGA: 20,21
ST   TH01: 9.3
ST   vWA: 17,18
DI   NCIt; C173099; Trichothiodystrophy 3, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2555 ! TTD1BR LCL
SX   Male
AG   16Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
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RX   PubMed=1372096; DOI=10.1016/0921-8777(92)90074-d;
RA   Arlett C.F., Harcourt S.A., Cole J., Green M.H.L., Anstey A.V.;
RT   "A comparison of the response of unstimulated and stimulated
RT   T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and
RT   trichothiodystrophy donors to the lethal action of UV-C.";
RL   Mutat. Res. 273:127-135(1992).
//
RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
RX   PubMed=8213812; PMCID=PMC1682382;
RA   Stefanini M., Vermeulen W., Weeda G., Giliani S., Nardo T.,
RA   Mezzina M., Sarasin A., Harper J.I., Arlett C.F., Hoeijmakers J.H.J.,
RA   Lehmann A.R.;
RT   "A new nucleotide-excision-repair gene associated with the disorder
RT   trichothiodystrophy.";
RL   Am. J. Hum. Genet. 53:817-821(1993).
//
RX   PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459;
RA   Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G.,
RA   Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R.,
RA   Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.;
RT   "Short tandem repeat profiling provides an international reference
RT   standard for human cell lines.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001).
//
RX   PubMed=15220921; DOI=10.1038/ng1387;
RA   Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F.,
RA   Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J.,
RA   Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J.,
RA   Vermeulen W.;
RT   "A new, tenth subunit of TFIIH is responsible for the DNA repair
RT   syndrome trichothiodystrophy group A.";
RL   Nat. Genet. 36:714-719(2004).
//