ID   TTD1VI
AC   CVCL_XF98
SY   TTD 1VI; TrichoThioDystrophy 1 VIllejuif
DR   Wikidata; Q98133658
RX   PubMed=1281671;
RX   PubMed=7671243;
RX   PubMed=8055625;
RX   PubMed=8571952;
RX   PubMed=8824772;
RX   PubMed=15009740;
RX   PubMed=18470933;
RX   PubMed=18676829;
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.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=8571952).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (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   9M
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
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RX   PubMed=1281671; DOI=10.1111/j.1365-2133.1992.tb14845.x;
RA   Sarasin A., Blanchet-Bardon C., Renault G., Lehmann A.R., Arlett C.F.,
RA   Dumez Y.;
RT   "Prenatal diagnosis in a subset of trichothiodystrophy patients
RT   defective in DNA repair.";
RL   Br. J. Dermatol. 127:485-491(1992).
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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=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina M., Eveno E., Chevallier-Lagente O., Benoit A., Carreau M.,
RA   Vermeulen W., Hoeijmakers J.H.J., Stefanini M., Lehmann A.R.,
RA   Weber C.A., Sarasin A.;
RT   "Correction by the ERCC2 gene of UV sensitivity and repair deficiency
RT   phenotype in a subset of trichothiodystrophy cells.";
RL   Carcinogenesis 15:1493-1498(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).
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RX   PubMed=8824772; DOI=10.1016/0300-9084(95)90011-x;
RA   Eveno E., Quilliet X., Chevallier-Lagente O., Daya-Grosjean L.,
RA   Stary A., Zeng L., Benoit A., Savini E., Ciarrocchi G., Kannouche P.,
RA   Salles B., Sarasin A., Mezzina M.;
RT   "Stable SV40-transformation and characterisation of some DNA repair
RT   properties of fibroblasts from a trichothiodystrophy patient.";
RL   Biochimie 77:906-912(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=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783;
RA   Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G.,
RA   Nadem C., DiGiovanna J.J., Kraemer K.H.;
RT   "Persistence of repair proteins at unrepaired DNA damage distinguishes
RT   diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma
RT   pigmentosum vs. non-cancer-prone trichothiodystrophy.";
RL   Hum. Mutat. 29:1194-1208(2008).
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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).
//