Cellosaurus cell line STUC (CVCL

Cross-references
Cell line name	STUC
Accession	CVCL_ZP47
Resource Identification Initiative	To cite this cell line use: STUC (RRID:CVCL_ZP47)
Comments	Population: Japanese. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Glu55Ter (c.163G>T); ClinVar=VCV000975158; Zygosity=Homozygous (PubMed=24986372).
Disease	Trichothiodystrophy 3, photosensitive (NCIt: C173099) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5Y
Category	Finite cell line
Publications	PubMed=24986372; DOI=10.1111/1346-8138.12549 Shinichi Moriwaki, Hiroshi Saruwatari, Tamotsu Kanzaki, Takuro Kanekura, Shinsei Minoshima; Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. J. Dermatol. 41:705-708(2014)
Encyclopedic resources	Wikidata; Q98132862
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7