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Cellosaurus TTD7PV (CVCL_RU77)

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Cell line name TTD7PV
Synonyms TrichoThioDystrophy 7 PaVia
Accession CVCL_RU77
Resource Identification Initiative To cite this cell line use: TTD7PV (RRID:CVCL_RU77)
Comments From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=9758621).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=9758621).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=9758621).
Disease Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y9M
Category Finite cell line
Publications

PubMed=9758621; DOI=10.1086/302063; PMCID=PMC1377495
Elena Botta, Tiziana Nardo, Bernard C. Broughton, Stefano Marinoni, Alan Robert Lehmann, Miria Stefanini;
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Am. J. Hum. Genet. 63:1036-1048(1998)

Cross-references
Cell line databases/resources CLO; CLO_0009430
CLDB; cl4557
Encyclopedic resources Wikidata; Q54973267
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number13