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Cellosaurus GM20000 (CVCL_E127)

[Text version]
Cell line name GM20000
Accession CVCL_E127
Resource Identification Initiative To cite this cell line use: GM20000 (RRID:CVCL_E127)
Comments Part of: ENCODE project common cell types; tier 3.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 28862; NIPBL; Simple; p.Glu1908Ilefs*13 (c.5721_5725delTGAAA) (5721del5); Zygosity=Heterozygous (Coriell=GM20000).
Disease Cornelia de Lange syndrome (NCIt: C75016)
Cornelia de Lange syndrome (ORDO: Orphanet_199)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Web pages http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM20000_Crawford_protocol.pdf
Cross-references
Cell line collections (Providers) Coriell; GM20000
Cell line databases/resources CLO; CLO_0028368
Biological sample resources ENCODE; ENCBS223AAA
Encyclopedic resources Wikidata; Q54850776
Experimental variables resources EFO; EFO_0005352
Gene expression databases GEO; GSM1008587
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number19