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Cellosaurus TTD355BE (CVCL_RG82)

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Cell line name TTD355BE
Synonyms TrichoThioDystrophy 355 BEthesda; JA1410
Accession CVCL_RG82
Resource Identification Initiative To cite this cell line use: TTD355BE (RRID:CVCL_RG82)
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.Glu731Argfs*14 (c.2190delG) (730fs); Zygosity=Heterozygous; Note=Other allele is not expressed (PubMed=18470933).
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=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783
Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John Joseph DiGiovanna, Kenneth H. Kraemer;
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Hum. Mutat. 29:1194-1208(2008)

Cross-references
Encyclopedic resources Wikidata; Q54898502
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11