ID   TTD4VI
AC   CVCL_ZP30
SY   TrichoThioDystrophy 4 VIllejuif
DR   Wikidata; Q98133671
RX   PubMed=9012405;
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Thr119Pro (c.355A>C); ClinVar=VCV000016584; Zygosity=Homozygous (PubMed=9012405).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173103; Trichothiodystrophy 2, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//