ID   CS2IAF
AC   CVCL_ZT16
DR   Wikidata; Q98125742
RX   PubMed=8834235;
RX   PubMed=9338586;
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Tyr322Ter (c.966C>A); ClinVar=VCV000001715; Zygosity=Homozygous (PubMed=9338586).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   5Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=8834235; DOI=10.1007/BF02267059;
RA   Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R.;
RT   "Genetic analysis of twenty-two patients with Cockayne syndrome.";
RL   Hum. Genet. 97:418-423(1996).
//
RX   PubMed=9338586; DOI=10.1002/(SICI)1098-1004(1997)10:4<317::AID-HUMU8>3.0.CO;2-D;
RA   McDaniel L.D., Legerski R.J., Lehmann A.R., Friedberg E.C.,
RA   Schultz R.A.;
RT   "Confirmation of homozygosity for a single nucleotide substitution
RT   mutation in a Cockayne syndrome patient using monoallelic mutation
RT   analysis in somatic cell hybrids.";
RL   Hum. Mutat. 10:317-321(1997).
//