Cellosaurus cell line TTD8PV (CVCL

Cellosaurus TTD8PV (CVCL_RU78)

Cross-references
Cell line name	TTD8PV
Synonyms	TrichoThioDystrophy 8 PaVia
Accession	CVCL_RU78
Resource Identification Initiative	To cite this cell line use: TTD8PV (RRID:CVCL_RU78)
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=Homozygous (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	1Y
Category	Finite cell line
Publications	PubMed=7671243 Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M. Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res. 55:4325-4332(1995) 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)
Cell line databases/resources	CLO; CLO_0009431 CLDB; cl4558
Encyclopedic resources	Wikidata; Q54973269
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10