Cellosaurus cell line TTD99RO (CVCL

Cross-references
Cell line name	TTD99RO
Synonyms	TrichoThioDystrophy 99 ROtterdam
Accession	CVCL_ZP46
Resource Identification Initiative	To cite this cell line use: TTD99RO (RRID:CVCL_ZP46)
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.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Homozygous (PubMed=15220921).
Disease	Trichothiodystrophy 3, photosensitive (NCIt: C173099) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
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, Rudolf 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)
Encyclopedic resources	Wikidata; Q98133679
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7