Cellosaurus cell line TTD18PV (CVCL

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: Deep exome analysis. 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 Theil A.F., Botta E., Raams A., Smith D.E.C., Mendes M.I., Caligiuri G., Giachetti S., Bione S., Carriero R., Liberi G., Zardoni L., Swagemakers S.M.A., Salomons G.S., Sarasin A., Lehmann A.R., van der Spek P.J., Ogi T., Hoeijmakers J.H.J., Vermeulen W., Orioli D. 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	19-Dec-2024
Version number	8