Cellosaurus cell line TTD5VI (CVCL

Cellosaurus TTD5VI (CVCL_ZP25)

Cross-references
Cell line name	TTD5VI
Synonyms	TrichoThioDystrophy 5 VIllejuif
Accession	CVCL_ZP25
Resource Identification Initiative	To cite this cell line use: TTD5VI (RRID:CVCL_ZP25)
Comments	Omics: Genomics; Whole exome sequencing. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11572; TARS1; Simple; p.Leu227Pro (c.680T>C); ClinVar=VCV000689399; Zygosity=Homozygous (PubMed=31374204).
Disease	Trichothiodystrophy 7, nonphotosensitive (NCIt: C173102) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
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=31374204; DOI=10.1016/j.ajhg.2019.06.017; PMCID=PMC6698936 Arjan F. Theil, Elena Botta, Anja Raams, Desiree E.C. Smith, Marisa I. Mendes, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Roberta Carriero, Giordano Liberi, Luca Zardoni ...Show all 20 authors... , Sigrid M.A. Swagemakers, Gajja S. Salomons, Alain Sarasin, Alan Robert Lehmann, Peter J. van der Spek, Tomoo Ogi, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Donata Orioli; Show fewer authors Bi-allelic TARS mutations are associated with brittle hair phenotype. Am. J. Hum. Genet. 105:434-440(2019)
Encyclopedic resources	Wikidata; Q98133673
Entry history
Entry creation	02-Jul-2020
Last entry update	10-Apr-2025
Version number	8