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Cellosaurus TTD4VILas (CVCL_ZP31)

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Cell line name TTD4VILas
Accession CVCL_ZP31
Resource Identification Initiative To cite this cell line use: TTD4VILas (RRID:CVCL_ZP31)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Thr119Pro (c.355A>C); ClinVar=VCV000016584; Zygosity=Homozygous (from parent cell line).
Disease Trichothiodystrophy 2, photosensitive (NCIt: C173103)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZP30 (TTD4VI)
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; Q98133672
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9