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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; 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
Marionnet C., Benoit A., Benhamou S., Sarasin A., Stary A.
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
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; Q98133659
Entry history
Entry creation06-Sep-2019
Last entry update10-Apr-2025
Version number14