ID   GM1629(SV)
AC   CVCL_4Y26
SY   GM1629SV
DR   GEO; GSM3048746
DR   GEO; GSM3048747
DR   GEO; GSM3048748
DR   GEO; GSM3048749
DR   JCRB; KURB1919
DR   Wikidata; Q54848440
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Tyr1179Leufs*22 (c.3536delA) (3615delA); ClinVar=VCV000190167; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
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)
HI   CVCL_L473 ! CS1BE
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 10-04-25; Version: 14
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