ID   TTD13PV
AC   CVCL_4Z80
SY   TrichoThioDystrophy 13 PaVia; TTD331BE; GM15908
DR   CLO; CLO_0018616
DR   Coriell; GM15908
DR   Wikidata; Q54848269
RX   PubMed=15220921;
RX   PubMed=18470933;
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV002136487; Zygosity=Homozygous (PubMed=15220921; PubMed=18470933).
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)
OI   CVCL_4Z72 ! TTD13PV LCL
SX   Male
AG   19Y
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 10
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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).
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RX   PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783;
RA   Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G.,
RA   Nadem C., DiGiovanna J.J., Kraemer K.H.;
RT   "Persistence of repair proteins at unrepaired DNA damage distinguishes
RT   diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma
RT   pigmentosum vs. non-cancer-prone trichothiodystrophy.";
RL   Hum. Mutat. 29:1194-1208(2008).
//