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Cellosaurus TTDH6PV (CVCL_RU88)

[Text version]
Cell line name TTDH6PV
Synonyms TrichoThioDystrophy Heterozygote 6 PaVia
Accession CVCL_RU88
Resource Identification Initiative To cite this cell line use: TTDH6PV (RRID:CVCL_RU88)
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; 3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=9758621).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Finite cell line
Publications

PubMed=9758621; DOI=10.1086/302063
Botta E., Nardo T., Broughton B.C., Marinoni S., Lehmann A.R., Stefanini M.
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_0009441
CLDB; cl4568
Encyclopedic resources Wikidata; Q54973283
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number7