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Cellosaurus TTD1VI-LAS-KMT11 (CVCL_XG12)

[Text version]
Cell line name TTD1VI-LAS-KMT11
Accession CVCL_XG12
Resource Identification Initiative To cite this cell line use: TTD1VI-LAS-KMT11 (RRID:CVCL_XG12)
Comments Characteristics: Expression of the SV40 large T antigen is under the control of the metal ion-inducible mouse metallothionein-1 promoter (PubMed=7563073).
Genetic integration: Method=Transfection; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen.
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_XF99 (TTD1VILas)
Children:
CVCL_XG13 (TTD1VI-LAS-KMT11-D10)
Sex of cell Male
Age at sampling 9M
Category Transformed cell line
Publications

PubMed=7563073; DOI=10.1006/jmbi.1995.0519
Claire Marionnet, Annie Benoit, Simone Benhamou, Alain Sarasin, Anne Stary;
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
J. Mol. Biol. 252:550-562(1995)

PubMed=8968100
Claire Marionnet, Xavier Quilliet, Annie Benoit, Jacques Armier, Alain Sarasin, Anne Stary;
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
Claire Marionnet, Jacques Armier, Alain Sarasin, Anne Stary;
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; Q98133659
Entry history
Entry creation06-Sep-2019
Last entry update14-Aug-2025
Version number15