Cellosaurus cell line TTD12PV (CVCL

Cross-references
Cell line name	TTD12PV
Synonyms	TrichoThioDystrophy 12 PaVia
Accession	CVCL_ZT12
Resource Identification Initiative	To cite this cell line use: TTD12PV (RRID:CVCL_ZT12)
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.Cys259Tyr (c.776G>A); ClinVar=VCV000329522; Zygosity=Heterozygous (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	Male
Age at sampling	1-2Y
Category	Finite cell line
Publications	PubMed=9758621; DOI=10.1086/302063; PMCID=PMC1377495 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)
Encyclopedic resources	Wikidata; Q98133652
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8