ID   TTD3VI
AC   CVCL_ZN54
SY   TrichoThioDystrophy 3 VIllejuif
DR   Wikidata; Q98133669
RX   PubMed=7671243;
RX   PubMed=8571952;
RX   PubMed=9012405;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=8571952).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg658His (c.1973G>A); ClinVar=VCV001499293; Zygosity=Heterozygous (PubMed=8571952).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (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
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
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=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).
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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).
//