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Cellosaurus TTD4PV (CVCL_RU74)

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Cell line name TTD4PV
Synonyms TrichoThioDystrophy 4 PaVia
Accession CVCL_RU74
Resource Identification Initiative To cite this cell line use: TTD4PV (RRID:CVCL_RU74)
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.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Heterozygous (PubMed=9758621).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Thr482del (c.1445_1447delCCA); 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 7Y
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_0009427
CLDB; cl4554
Encyclopedic resources Wikidata; Q54973264
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11