Cellosaurus cell line TTD14PV (CVCL

Cellosaurus TTD14PV (CVCL_4Z79)

Cross-references
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	Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV002136487; Zygosity=Homozygous (PubMed=15220921; PubMed=18470933).
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 Giuseppina Giglia-Mari, Frederic Coin, Jeffrey A. Ranish, Deborah Hoogstraten, Arjan F. Theil, Nils Wijgers, Nicolaas G.J. Jaspers, Anja Raams, Manuela Argentini, Peter J. van der Spek, Elena Botta ...Show all 16 authors... , Miria Stefanini, Jean-Marc Egly, Ruedi Aebersold, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen; Show fewer authors 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 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)
Cell line collections (Providers)	Coriell; GM15907
Cell line databases/resources	CLO; CLO_0018617
Encyclopedic resources	Wikidata; Q54848268
Entry history
Entry creation	14-Dec-2015
Last entry update	19-Dec-2024
Version number	10