ID   TTD2GL
AC   CVCL_4Z78
SY   TrichoThioDystrophy 2 GLascow; P2; GM15754
DR   CLO; CLO_0027696
DR   Coriell; GM15754
DR   Wikidata; Q54848176
RX   PubMed=2458832;
RX   PubMed=6492094;
RX   PubMed=7920640;
CC   Population: Caucasian; Scottish.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Heterozygous (PubMed=7920640).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Unexplicit; IVS15+2dupT; 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   Female
AG   3Y6M
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 12
//
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=6492094; DOI=10.1136/jmg.21.4.286; PMCID=PMC1049299;
RA   King M.D., Gummer C.L., Stephenson J.B.P.;
RT   "Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a
RT   report of two unrelated cases.";
RL   J. Med. Genet. 21:286-289(1984).
//
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).
//