Cellosaurus logo
expasy logo

Cellosaurus TTD2BR (CVCL_4Z76)

[Text][XML][JSON]
Cell line name TTD2BR
Synonyms TrichoThioDystrophy 2 BRighton; GM15752
Accession CVCL_4Z76
Resource Identification Initiative To cite this cell line use: TTD2BR (RRID:CVCL_4Z76)
Comments Population: Caucasian.
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.Val488_Met493del (c.1462_1479del18) (1540-1557del); Zygosity=Heterozygous (PubMed=7920640).
  • 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 Female
Age at sampling 4M
Category Finite cell line
Publications

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

Cross-references
Cell line collections (Providers) Coriell; GM15752
Cell line databases/resources CLO; CLO_0027694
Encyclopedic resources Wikidata; Q54848174
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number13