ID   STUC
AC   CVCL_ZP47
DR   Wikidata; Q98132862
RX   PubMed=24986372;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Glu55Ter (c.163G>T); ClinVar=VCV000975158; Zygosity=Homozygous (PubMed=24986372).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=24986372; DOI=10.1111/1346-8138.12549;
RA   Moriwaki S., Saruwatari H., Kanzaki T., Kanekura T., Minoshima S.;
RT   "Trichothiodystrophy group A: a first Japanese patient with a novel
RT   homozygous nonsense mutation in the GTF2H5 gene.";
RL   J. Dermatol. 41:705-708(2014).
//