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Cellosaurus TTD1VI-LAS-KMT11-D10 (CVCL_XG13)

[Text version]
Cell line name TTD1VI-LAS-KMT11-D10
Synonyms TTD + ERCC2
Accession CVCL_XG13
Resource Identification Initiative To cite this cell line use: TTD1VI-LAS-KMT11-D10 (RRID:CVCL_XG13)
Comments Characteristics: Transfection of wildtype ERCC2 corrects the defects in the parent cell line.
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).
Genetic integration: Method=Transfection; Gene=HGNC; HGNC:3434; ERCC2.
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
Genetic integration: Method=Transfection; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (from parent cell line).
  • 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).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (from parent cell line).
Disease Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_XG12 (TTD1VI-LAS-KMT11)
Sex of cell Male
Age at sampling 9M
Category Transformed cell line
Publications

PubMed=8968100
Marionnet C., Quilliet X., Benoit A., Armier J., Sarasin A., Stary A.
Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene.
Cancer Res. 56:5450-5456(1996)

PubMed=9426065
Marionnet C., Armier J., Sarasin A., Stary A.
Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproducts in DNA repair-deficient trichothiodystrophy cells.
Cancer Res. 58:102-108(1998)

Cross-references
Encyclopedic resources Wikidata; Q98133662
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number13