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Cellosaurus TTD3VILas (CVCL_ZP24)

[Text version]
Cell line name TTD3VILas
Accession CVCL_ZP24
Resource Identification Initiative To cite this cell line use: TTD3VILas (RRID:CVCL_ZP24)
Comments 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.Arg658His (c.1973G>A); ClinVar=VCV001499293; 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).
Disease Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZN54 (TTD3VI)
Sex of cell Male
Category Transformed cell line
Publications

PubMed=7671243
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

Cross-references
Encyclopedic resources Wikidata; Q98133670
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number11