ID   TTD9VI
AC   CVCL_ZP43
SY   TrichoThioDystrophy 9 VIllejuif
DR   Wikidata; Q98133680
RX   PubMed=7671243;
RX   PubMed=15009740;
RX   PubMed=18676829;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Homozygous (PubMed=18676829).
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)
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=15009740; DOI=10.1046/j.0022-202X.2004.22226.x;
RA   Nishiwaki Y., Kobayashi N., Imoto K., Iwamoto T.-a., Yamamoto A.,
RA   Katsumi S., Shirai T., Sugiura S., Nakamura Y., Sarasin A.,
RA   Miyagawa S., Mori T.;
RT   "Trichothiodystrophy fibroblasts are deficient in the repair of
RT   ultraviolet-induced cyclobutane pyrimidine dimers and
RT   (6-4)photoproducts.";
RL   J. Invest. Dermatol. 122:526-532(2004).
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RX   PubMed=18676829; DOI=10.1158/0008-5472.CAN-07-6695;
RA   Chigancas V., de Lima-Bessa K.M., Stary A., Menck C.F.M., Sarasin A.;
RT   "Defective transcription/repair factor IIH recruitment to specific UV
RT   lesions in trichothiodystrophy syndrome.";
RL   Cancer Res. 68:6074-6083(2008).
//