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Cellosaurus TTD14PV (CVCL_4Z79)

[Text version]
Cell line name TTD14PV
Synonyms TrichoThioDystrophy 14 PaVia; TTD332BE; GM15907
Accession CVCL_4Z79
Resource Identification Initiative To cite this cell line use: TTD14PV (RRID:CVCL_4Z79)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Trichothiodystrophy 3, photosensitive (NCIt: C173099)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_4Z73 ! TTD14PV LCL
Sex of cell Male
Age at sampling 21Y
Category Finite cell line
Publications

PubMed=15220921; DOI=10.1038/ng1387
Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J., Vermeulen W.
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Nat. Genet. 36:714-719(2004)

PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783
Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H.
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
Cell line collections (Providers) Coriell; GM15907
Cell line databases/resources CLO; CLO_0018617
Encyclopedic resources Wikidata; Q54848268
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number10