ID   TTD99RO
AC   CVCL_ZP46
SY   TrichoThioDystrophy 99 ROtterdam
DR   Wikidata; Q98133679
RX   PubMed=15220921;
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Homozygous (PubMed=15220921).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173099; Trichothiodystrophy 3, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=15220921; DOI=10.1038/ng1387;
RA   Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F.,
RA   Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J.,
RA   Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J.,
RA   Vermeulen W.;
RT   "A new, tenth subunit of TFIIH is responsible for the DNA repair
RT   syndrome trichothiodystrophy group A.";
RL   Nat. Genet. 36:714-719(2004).
//