ID   CS2GO
AC   CVCL_ZT14
SY   Cockayne Syndrome 2 GOthenburg
DR   Wikidata; Q98125744
RX   DOI=10.21954/ou.ro.0000e27e;
RX   PubMed=8834235;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Leu45Pro (c.134C>T) (C213T); Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Trp851Arg (c.2551T>A) (T2630A); ClinVar=VCV000522698; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg1213Gly (c.3637A>G) (A3716G); ClinVar=VCV000129017; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e).
CC   Caution: CS2GO (Cellosaurus=CVCL_ZT14) and CS3GO (Cellosaurus=CVCL_ZT15) originate from 2 siblings, however their mutation profile is different, different hypothesis are proposed about this issue (DOI=10.21954/ou.ro.0000e27e).
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   9Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//