ID   CS4BR LCL
AC   CVCL_2557
SY   Cockayne Syndrome 4 BRighton LCL; LB242; 242
DR   ECACC; 98062324
DR   Wikidata; Q54902050
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Gln184Ter (c.550C>T) (C629T); ClinVar=VCV001459151; Zygosity=Heterozygous (from autologous cell line CS4BR).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (from autologous cell line CS4BR).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W050 ! CS4BR
SX   Female
AG   20Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 17
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