ID   TTD1VILas
AC   CVCL_XF99
SY   TTD1VI-LAS; SV40-TTD1VI
DR   Wikidata; Q98133663
RX   PubMed=7563073;
RX   PubMed=7671243;
RX   PubMed=8055625;
RX   PubMed=8824772;
RX   PubMed=18676829;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from parent cell line).
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 (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
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)
HI   CVCL_XF98 ! TTD1VI
SX   Male
AG   9M
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 12
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RX   PubMed=7563073; DOI=10.1006/jmbi.1995.0519;
RA   Marionnet C., Benoit A., Benhamou S., Sarasin A., Stary A.;
RT   "Characteristics of UV-induced mutation spectra in human XP-D/ERCC2
RT   gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.";
RL   J. Mol. Biol. 252:550-562(1995).
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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).
//
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=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).
//