ID   TTD5VI
AC   CVCL_ZP25
SY   TrichoThioDystrophy 5 VIllejuif
DR   Wikidata; Q98133673
RX   PubMed=7671243;
RX   PubMed=31374204;
CC   Sequence variation: Mutation; HGNC; HGNC:11572; TARS1; Simple; p.Leu227Pro (c.680T>C); ClinVar=VCV000689399; Zygosity=Homozygous (PubMed=31374204).
CC   Omics: Deep exome analysis.
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)
SX   Female
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
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).
//