| Cell line name |
TTD2GL |
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| Synonyms |
TrichoThioDystrophy 2 GLascow; P2; GM15754 |
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| Accession |
CVCL_4Z78 |
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| Resource Identification Initiative |
To cite this cell line use: TTD2GL (RRID:CVCL_4Z78) |
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| Comments |
Population: Caucasian; Scottish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| 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).
|
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| Disease |
Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Trichothiodystrophy (ORDO: Orphanet_33364) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
3Y6M |
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| Category |
Finite cell line |
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| Publications | PubMed=6492094; DOI=10.1136/jmg.21.4.286; PMCID=PMC1049299
Mary D. King, Christopher Lawrence Gummer, John Burdett Primmer Stephenson;
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
J. Med. Genet. 21:286-289(1984) PubMed=2458832
Alan R. Lehmann, Colin Francis Arlett, Bernard C. Broughton, Susan A. Harcourt, Herdis Steingrimsdottir, Miria Stefanini, Alexander Malcolm R. Taylor, Adayapalam Thyagarajan Natarajan, Stuart Green, Mary D. King, Rona McLeod MacKie ...Show all 13 authors... , John Burdett Primmer Stephenson, John Lorimer Tolmie; Show fewer authors
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
Bernard C. Broughton, Herdis Steingrimsdottir, Christine A. Weber, Alan R. Lehmann;
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
Nat. Genet. 7:189-194(1994) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM15754
|
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| Cell line databases/resources |
CLO; CLO_0027696
|
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| Encyclopedic resources |
Wikidata; Q54848176
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| Entry history |
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| Entry creation | 14-Dec-2015 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 12 |
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