ID   CS4BR
AC   CVCL_W050
SY   Cockayne Syndrome 4 BRighton
DR   Wikidata; Q54814550
RX   PubMed=8823375;
RX   PubMed=8834235;
RX   PubMed=9443879;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Gln184Ter (c.550C>T) (C629T); ClinVar=VCV001459151; Zygosity=Heterozygous (PubMed=9443879).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; 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)
OI   CVCL_2557 ! CS4BR LCL
SX   Female
AG   20Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
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RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
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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).
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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).
//