ID   TTD18PV
AC   CVCL_ZP49
SY   TrichoThioDystrophy 18 PaVia
DR   Wikidata; Q98133654
RX   PubMed=31374204;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:11572; TARS1; Simple; p.Lys276Glu (c.826A>G); ClinVar=VCV000689398; Zygosity=Heterozygous (PubMed=31374204).
CC   Sequence variation: Mutation; HGNC; HGNC:11572; TARS1; Simple; p.Arg638Ter (c.1912C>T); ClinVar=VCV000689397; Zygosity=Heterozygous (PubMed=31374204).
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173102; Trichothiodystrophy 7, nonphotosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=31374204; DOI=10.1016/j.ajhg.2019.06.017; PMCID=PMC6698936;
RA   Theil A.F., Botta E., Raams A., Smith D.E.C., Mendes M.I.,
RA   Caligiuri G., Giachetti S., Bione S., Carriero R., Liberi G.,
RA   Zardoni L., Swagemakers S.M.A., Salomons G.S., Sarasin A., Lehmann A.R.,
RA   van der Spek P.J., Ogi T., Hoeijmakers J.H.J., Vermeulen W.,
RA   Orioli D.;
RT   "Bi-allelic TARS mutations are associated with brittle hair
RT   phenotype.";
RL   Am. J. Hum. Genet. 105:434-440(2019).
//