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Cellosaurus GM1629(SV) (CVCL_4Y26)

[Text version]
Cell line name GM1629(SV)
Synonyms GM1629SV
Accession CVCL_4Y26
Resource Identification Initiative To cite this cell line use: GM1629(SV) (RRID:CVCL_4Y26)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Tyr1179Leufs*22 (c.3536delA) (3615delA); ClinVar=VCV000190167; Zygosity=Heterozygous (from parent cell line).
Disease Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L473 (CS1BE)
Sex of cell Female
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) JCRB; KURB1919
Encyclopedic resources Wikidata; Q54848440
Gene expression databases GEO; GSM3048746
GEO; GSM3048747
GEO; GSM3048748
GEO; GSM3048749
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number13