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 Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors 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 Elena Botta, Tiziana Nardo, Bernard C. Broughton, Stefano Marinoni, Alan R. 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)
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