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Cellosaurus TTD1BI (CVCL_ZP57)

[Text version]
Cell line name TTD1BI
Synonyms TrichoThioDystrophy 1 BIrmingham; P3
Accession CVCL_ZP57
Resource Identification Initiative To cite this cell line use: TTD1BI (RRID:CVCL_ZP57)
Comments 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.Glu731Argfs*14 (c.2190delG) (730fs); Zygosity=Heterozygous (PubMed=7920640).
Disease Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Publications

PubMed=2458832
Lehmann A.R., Arlett C.F., Broughton B.C., Harcourt S.A., Steingrimsdottir H., Stefanini M., Taylor A.M.R., Natarajan A.T., Green S., King M.D., MacKie R.M., Stephenson J.B.P., Tolmie J.L.
Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.
Cancer Res. 48:6090-6096(1988)

PubMed=7920640; DOI=10.1038/ng0694-189
Broughton B.C., Steingrimsdottir H., Weber C.A., Lehmann A.R.
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
Nat. Genet. 7:189-194(1994)

Cross-references
Encyclopedic resources Wikidata; Q98133655
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8