ID   CS10BR
AC   CVCL_ZN67
SY   Cockayne Syndrome 10 BRighton
DR   Wikidata; Q98125719
RX   PubMed=9443879;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys1203Argfs*33 (c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA) (3686ins26); ClinVar=VCV000190168; Zygosity=Homozygous (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   Sex unspecified
AG   5Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
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).
//