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Cellosaurus TTD4VI (CVCL_ZP30)

[Text version]
Cell line name TTD4VI
Synonyms TrichoThioDystrophy 4 VIllejuif
Accession CVCL_ZP30
Resource Identification Initiative To cite this cell line use: TTD4VI (RRID:CVCL_ZP30)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Trichothiodystrophy 2, photosensitive (NCIt: C173103)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZP31 (TTD4VILas)
Sex of cell Female
Age at sampling 16Y
Category Finite cell line
Publications

PubMed=9012405; PMCID=PMC1712398
Geert Weeda, Eric Eveno, Ingrid Donker, Wim Vermeulen, Odile Chevallier-Lagente, Alain Taieb, Anne Stary, Jan Hendrik Jozef Hoeijmakers, Mauro Mezzina, Alain Sarasin;
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

Cross-references
Encyclopedic resources Wikidata; Q98133671
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7