ID   TTD1VI-LAS-KMT11-D10
AC   CVCL_XG13
SY   TTD + ERCC2
DR   Wikidata; Q98133662
RX   PubMed=8968100;
RX   PubMed=9426065;
CC   Characteristics: Transfection of wildtype ERCC2 corrects the defects in the parent cell line.
CC   Characteristics: Expression of the SV40 large T antigen is under the control of the metal ion-inducible mouse metallothionein-1 promoter (from parent cell line).
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=HGNC; HGNC:3434; ERCC2.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
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_XG12 ! TTD1VI-LAS-KMT11
SX   Male
AG   9M
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 13
//
RX   PubMed=8968100;
RA   Marionnet C., Quilliet X., Benoit A., Armier J., Sarasin A., Stary A.;
RT   "Recovery of normal DNA repair and mutagenesis in trichothiodystrophy
RT   cells after transduction of the XPD human gene.";
RL   Cancer Res. 56:5450-5456(1996).
//
RX   PubMed=9426065;
RA   Marionnet C., Armier J., Sarasin A., Stary A.;
RT   "Cyclobutane pyrimidine dimers are the main mutagenic DNA
RT   photoproducts in DNA repair-deficient trichothiodystrophy cells.";
RL   Cancer Res. 58:102-108(1998).
//