ID   CS1ABR
AC   CVCL_ZN68
SY   Cockayne Syndrome 1 Australia BRisbane
DR   Wikidata; Q98125723
RX   DOI=10.1086/302394;
RX   DOI=10.21954/ou.ro.0000e27e;
RX   PubMed=8834235;
RX   PubMed=9443879;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; c.2599-26A>G; ClinVar=VCV000190162; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; DOI=10.1086/302394).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys1203Argfs*33 (c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA) (3686ins26); ClinVar=VCV000190168; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; DOI=10.1086/302394).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   DOI=10.1086/302394;
RA   Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H.,
RA   van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.;
RT   "Erratum to: Molecular analysis of mutations in the CSB (ERCC6) gene in
RT   patients with Cockayne syndrome.";
RL   Am. J. Hum. Genet. 64:1491-1491(1999).
//
RX   DOI=10.21954/ou.ro.0000e27e;
RA   Mallery D.L.;
RT   "The identification and analysis of mutation in the Cockayne syndrome
RT   B gene.";
RL   Thesis PhD (1999); The Open University; Milton Keynes; United Kingdom.
//
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=9443879; DOI=10.1086/301686; PMCID=PMC1376810;
RA   Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H.,
RA   van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.;
RT   "Molecular analysis of mutations in the CSB (ERCC6) gene in patients
RT   with Cockayne syndrome.";
RL   Am. J. Hum. Genet. 62:77-85(1998).
//