ID   TTDH5PV
AC   CVCL_RU87
SY   TrichoThioDystrophy Heterozygote 5 PaVia
DR   CLO; CLO_0009440
DR   CLDB; cl4567
DR   Wikidata; Q54973282
RX   PubMed=9758621;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=9758621).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=9758621).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 8
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RX   PubMed=9758621; DOI=10.1086/302063; PMCID=PMC1377495;
RA   Botta E., Nardo T., Broughton B.C., Marinoni S., Lehmann A.R.,
RA   Stefanini M.;
RT   "Analysis of mutations in the XPD gene in Italian patients with
RT   trichothiodystrophy: site of mutation correlates with repair
RT   deficiency, but gene dosage appears to determine clinical severity.";
RL   Am. J. Hum. Genet. 63:1036-1048(1998).
//