ID   TTD351BE
AC   CVCL_RG81
SY   TrichoThioDystrophy 351 BEthesda; JA1389
DR   Wikidata; Q54898501
RX   PubMed=18470933;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg378His (c.1133G>A); ClinVar=VCV001812770; Zygosity=Heterozygous (PubMed=18470933).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=18470933).
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   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
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RX   PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783;
RA   Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G.,
RA   Nadem C., DiGiovanna J.J., Kraemer K.H.;
RT   "Persistence of repair proteins at unrepaired DNA damage distinguishes
RT   diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma
RT   pigmentosum vs. non-cancer-prone trichothiodystrophy.";
RL   Hum. Mutat. 29:1194-1208(2008).
//