ID   TTD1BEL
AC   CVCL_4Z77
SY   GM15753
DR   CLO; CLO_0027695
DR   Coriell; GM15753
DR   Wikidata; Q54848175
RX   PubMed=1372096;
RX   PubMed=7920640;
RX   PubMed=8571952;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg616Pro (c.1847G>C); ClinVar=VCV000329508; Zygosity=Heterozygous (PubMed=7920640; PubMed=8571952).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=7920640; PubMed=8571952).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156433; Trichothiodystrophy 1, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
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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).
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RX   PubMed=7920640; DOI=10.1038/ng0694-189;
RA   Broughton B.C., Steingrimsdottir H., Weber C.A., Lehmann A.R.;
RT   "Mutations in the xeroderma pigmentosum group D DNA
RT   repair/transcription gene in patients with trichothiodystrophy.";
RL   Nat. Genet. 7:189-194(1994).
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RX   PubMed=8571952; PMCID=PMC1914548;
RA   Takayama K., Salazar E.P., Broughton B.C., Lehmann A.R., Sarasin A.,
RA   Thompson L.H., Weber C.A.;
RT   "Defects in the DNA repair and transcription gene ERCC2(XPD) in
RT   trichothiodystrophy.";
RL   Am. J. Hum. Genet. 58:263-270(1996).
//