ID   174TOR
AC   CVCL_ZP23
DR   Wikidata; Q98125305
RX   PubMed=17273966;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Gln158Ter (c.472C>T); ClinVar=VCV000016777; Zygosity=Heterozygous (PubMed=17273966).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=17273966; DOI=10.1086/512486; PMCID=PMC1821117;
RA   Jaspers N.G.J., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J.,
RA   Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J.,
RA   Hoeijmakers J.H.J., Vermeulen W.;
RT   "First reported patient with human ERCC1 deficiency has
RT   cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide
RT   excision repair and severe developmental failure.";
RL   Am. J. Hum. Genet. 80:457-466(2007).
//