ID   TTD2BR
AC   CVCL_4Z76
SY   TrichoThioDystrophy 2 BRighton; GM15752
DR   CLO; CLO_0027694
DR   Coriell; GM15752
DR   Wikidata; Q54848174
RX   PubMed=7920640;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Val488_Met493del (c.1462_1479del18) (1540-1557del); Zygosity=Heterozygous (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   Female
AG   4M
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
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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).
//