ID   TTD6VI
AC   CVCL_ZP26
SY   TrichoThioDystrophy 6 VIllejuif
DR   Wikidata; Q98133675
RX   PubMed=7671243;
RX   PubMed=9012405;
RX   PubMed=10332046;
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Thr119Pro (c.355A>C); ClinVar=VCV000016584; Zygosity=Homozygous (PubMed=9012405).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173103; Trichothiodystrophy 2, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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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).
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RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
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RX   PubMed=10332046; DOI=10.1093/hmg/8.6.1125;
RA   Riou L., Zeng L., Chevallier-Lagente O., Stary A., Nikaido O.,
RA   Taieb A., Weeda G., Mezzina M., Sarasin A.;
RT   "The relative expression of mutated XPB genes results in xeroderma
RT   pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular
RT   phenotypes.";
RL   Hum. Mol. Genet. 8:1125-1133(1999).
//