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Cellosaurus TTD2GL (CVCL_4Z78)

[Text version]
Cell line name TTD2GL
Synonyms TrichoThioDystrophy 2 GLascow; P2; GM15754
Accession CVCL_4Z78
Resource Identification Initiative To cite this cell line use: TTD2GL (RRID:CVCL_4Z78)
Comments Population: Caucasian; Scottish.
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.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Heterozygous (PubMed=7920640).
  • Mutation; HGNC; HGNC:3434; ERCC2; Unexplicit; IVS15+2dupT; 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 3Y6M
Category Finite cell line
Publications

PubMed=6492094; DOI=10.1136/jmg.21.4.286; PMCID=PMC1049299
King M.D., Gummer C.L., Stephenson J.B.P.
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
J. Med. Genet. 21:286-289(1984)

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
Cell line collections (Providers) Coriell; GM15754
Cell line databases/resources CLO; CLO_0027696
Encyclopedic resources Wikidata; Q54848176
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number12