ID   TTD1BI
AC   CVCL_ZP57
SY   TrichoThioDystrophy 1 BIrmingham; P3
DR   Wikidata; Q98133655
RX   PubMed=2458832;
RX   PubMed=7920640;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Glu731Argfs*14 (c.2190delG) (730fs); Zygosity=Heterozygous (PubMed=7920640).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156433; Trichothiodystrophy 1, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=2458832;
RA   Lehmann A.R., Arlett C.F., Broughton B.C., Harcourt S.A.,
RA   Steingrimsdottir H., Stefanini M., Taylor A.M.R., Natarajan A.T.,
RA   Green S., King M.D., MacKie R.M., Stephenson J.B.P., Tolmie J.L.;
RT   "Trichothiodystrophy, a human DNA repair disorder with heterogeneity
RT   in the cellular response to ultraviolet light.";
RL   Cancer Res. 48:6090-6096(1988).
//
RX   PubMed=7920640; DOI=10.1038/ng0694-189;
RA   Broughton B.C., Steingrimsdottir H., Weber C.A., Lehmann A.R.;
RT   "Mutations in the xeroderma pigmentosum group D DNA
RT   repair/transcription gene in patients with trichothiodystrophy.";
RL   Nat. Genet. 7:189-194(1994).
//