ID   TTD2VI
AC   CVCL_XG00
SY   TTD 2VI; TrichoThioDystrophy 2 VIllejuif
DR   Wikidata; Q98133664
RX   PubMed=1281671;
RX   PubMed=7671243;
RX   PubMed=8055625;
RX   PubMed=8392442;
RX   PubMed=8824772;
RX   PubMed=9012405;
RX   PubMed=15009740;
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   Female
AG   4Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 7
CH   CVCL_XG01 ! TTD2VILas
//
RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda, Geert
RA   Eveno, Eric
RA   Donker, Ingrid
RA   Vermeulen, Wim
RA   Chevallier-Lagente, Odile
RA   Taieb, Alain
RA   Stary, Anne
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Mezzina, Mauro
RA   Sarasin, Alain
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//
RX   PubMed=15009740; DOI=10.1046/j.0022-202X.2004.22226.x;
RA   Nishiwaki, Yoko
RA   Kobayashi, Nobuhiko
RA   Imoto, Kyoko
RA   Iwamoto, Taka-aki
RA   Yamamoto, Aya
RA   Katsumi, Sachiko
RA   Shirai, Toshihiko
RA   Sugiura, Shigeki
RA   Nakamura, Yu
RA   Sarasin, Alain
RA   Miyagawa, Sachiko
RA   Mori, Toshio
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).
//
RX   PubMed=1281671; DOI=10.1111/j.1365-2133.1992.tb14845.x;
RA   Sarasin, Alain
RA   Blanchet-Bardon, Claudine
RA   Renault, Georges
RA   Lehmann, Alan Robert
RA   Arlett, Colin Francis
RA   Dumez, Yves
RT   "Prenatal diagnosis in a subset of trichothiodystrophy patients
RT   defective in DNA repair.";
RL   Br. J. Dermatol. 127:485-491(1992).
//
RX   PubMed=8055625; DOI=10.1093/carcin/15.8.1493;
RA   Mezzina, Mauro
RA   Eveno, Eric
RA   Chevallier-Lagente, Odile
RA   Benoit, Annie
RA   Carreau, Madeleine
RA   Vermeulen, Wim
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Stefanini, Miria
RA   Lehmann, Alan Robert
RA   Weber, Christine A.
RA   Sarasin, Alain
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).
//
RX   PubMed=7671243;
RA   Eveno, Eric
RA   Bourre, Francois
RA   Quilliet, Xavier
RA   Chevallier-Lagente, Odile
RA   Roza, Len
RA   Eker, Andre P.M.
RA   Kleijer, Wim J.
RA   Nikaido, Osamu
RA   Stefanini, Miria
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Bootsma, Dirk
RA   Cleaver, James Edward
RA   Sarasin, Alain
RA   Mezzina, Mauro
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
RX   PubMed=8392442; DOI=10.1093/carcin/14.7.1255;
RA   Madzak, Catherine
RA   Armier, Jacques
RA   Stary, Anne
RA   Daya-Grosjean, Leela
RA   Sarasin, Alain
RT   "UV-induced mutations in a shuttle vector replicated in repair
RT   deficient trichothiodystrophy cells differ with those in
RT   genetically-related cancer prone xeroderma pigmentosum.";
RL   Carcinogenesis 14:1255-1260(1993).
//
RX   PubMed=8824772; DOI=10.1016/0300-9084(95)90011-x;
RA   Eveno, Eric
RA   Quilliet, Xavier
RA   Chevallier-Lagente, Odile
RA   Daya-Grosjean, Leela
RA   Stary, Anne
RA   Zeng, Lin
RA   Benoit, Annie
RA   Savini, Elena
RA   Ciarrocchi, Giovanni
RA   Kannouche, Patricia
RA   Salles, Bernard
RA   Sarasin, Alain
RA   Mezzina, Mauro
RT   "Stable SV40-transformation and characterisation of some DNA repair
RT   properties of fibroblasts from a trichothiodystrophy patient.";
RL   Biochimie 77:906-912(1995).
//