Cellosaurus cell line TTD18PV (CVCL

Cellosaurus TTD18PV (CVCL_ZP49)

Cross-references
Cell line name	TTD18PV
Synonyms	TrichoThioDystrophy 18 PaVia
Accession	CVCL_ZP49
Resource Identification Initiative	To cite this cell line use: TTD18PV (RRID:CVCL_ZP49)
Comments	From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy. Population: Caucasian; Italian. 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.Lys276Glu (c.826A>G); ClinVar=VCV000689398; Zygosity=Heterozygous (PubMed=31374204). Mutation; HGNC; HGNC:11572; TARS1; Simple; p.Arg638Ter (c.1912C>T); ClinVar=VCV000689397; Zygosity=Heterozygous (PubMed=31374204).
Disease	Trichothiodystrophy 7, nonphotosensitive (NCIt: C173102) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	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 R. 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; Q98133654
Entry history
Entry creation	02-Jul-2020
Last entry update	10-Apr-2025
Version number	9