ID   TTD1RO
AC   CVCL_V270
SY   TrichoThioDystrophy 1 ROtterdam; GM17424
DR   CLO; CLO_0012333
DR   Coriell; GM17424
DR   Wikidata; Q54848861
RX   PubMed=7802014;
RX   PubMed=8571952;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg658Cys (c.1972C>T); ClinVar=VCV000016785; Zygosity=Heterozygous (PubMed=8571952).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly713Arg (c.2137G>C); ClinVar=VCV000016786; Zygosity=Heterozygous (PubMed=8571952).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156433; Trichothiodystrophy 1, photosensitive
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_33364; Trichothiodystrophy
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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RX   PubMed=7802014; DOI=10.1002/ajmg.1320520220;
RA   Kleijer W.J., Beemer F.A., Boom B.W.;
RT   "Intermittent hair loss in a child with PIBI(D)S syndrome and
RT   trichothiodystrophy with defective DNA repair-xeroderma pigmentosum
RT   group D.";
RL   Am. J. Med. Genet. 52:227-230(1994).
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RX   PubMed=8571952; PMCID=PMC1914548;
RA   Takayama K., Salazar E.P., Broughton B.C., Lehmann A.R., Sarasin A.,
RA   Thompson L.H., Weber C.A.;
RT   "Defects in the DNA repair and transcription gene ERCC2(XPD) in
RT   trichothiodystrophy.";
RL   Am. J. Hum. Genet. 58:263-270(1996).
//