ID   CS1BO
AC   CVCL_ZQ19
SY   Cockayne Syndrome 1 BOston
DR   Wikidata; Q98125727
RX   PubMed=8834235;
RX   PubMed=9443879;
RX   PubMed=18079351;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys506Asnfs*37 (c.1518delG) (1597delG); ClinVar=VCV000190150; Zygosity=Heterozygous (PubMed=9443879).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Pro1095Arg (c.3284C4G) (G3363C); ClinVar=VCV000001707; Zygosity=Heterozygous (PubMed=9443879).
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   1Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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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).
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RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//