Cellosaurus logo
expasy logo

Cellosaurus TTD1BRSV (CVCL_ZP45)

[Text version]
Cell line name TTD1BRSV
Synonyms TTD1BR-sv
Accession CVCL_ZP45
Resource Identification Initiative To cite this cell line use: TTD1BRSV (RRID:CVCL_ZP45)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (from parent cell line).
Disease Trichothiodystrophy 3, photosensitive (NCIt: C173099)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W046 (TTD1BR)
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

PubMed=15220921; DOI=10.1038/ng1387
Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J., Vermeulen W.
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Nat. Genet. 36:714-719(2004)

PubMed=23637614; DOI=10.1371/journal.pgen.1003431; PMCID=PMC3630102
Theil A.F., Nonnekens J., Steurer B., Mari P.-O., de Wit J., Lemaitre C., Marteijn J.A., Raams A., Maas A., Vermeij M., Essers J., Hoeijmakers J.H.J., Giglia-Mari G., Vermeulen W.
Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.
PLoS Genet. 9:e1003431.1-e1003431.15(2013)

Cross-references
Encyclopedic resources Wikidata; Q98133656
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8