ID   TTD1BRSV
AC   CVCL_ZP45
SY   TTD1BR-sv
DR   Wikidata; Q98133656
RX   PubMed=15220921;
RX   PubMed=23637614;
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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)
HI   CVCL_W046 ! TTD1BR
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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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).
//
RX   PubMed=23637614; DOI=10.1371/journal.pgen.1003431; PMCID=PMC3630102;
RA   Theil A.F., Nonnekens J., Steurer B., Mari P.-O., de Wit J.,
RA   Lemaitre C., Marteijn J.A., Raams A., Maas A., Vermeij M., Essers J.,
RA   Hoeijmakers J.H.J., Giglia-Mari G., Vermeulen W.;
RT   "Disruption of TTDA results in complete nucleotide excision repair
RT   deficiency and embryonic lethality.";
RL   PLoS Genet. 9:e1003431.1-e1003431.15(2013).
//