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Cellosaurus GM21654 (CVCL_EG00)

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Cell line name GM21654
Accession CVCL_EG00
Resource Identification Initiative To cite this cell line use: GM21654 (RRID:CVCL_EG00)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:30794; CEP57; Simple; p.Glu174Thrfs*4 (c.518_519GA[1]) (c.520_521delGA); ClinVar=VCV000030690; Zygosity=Heterozygous (PubMed=30804344).
  • Mutation; HGNC; HGNC:30794; CEP57; Simple; p.Leu309Profs*9 (c.915_925dup11) (p.His317fs); ClinVar=VCV000030691; Zygosity=Heterozygous (PubMed=30804344).
Disease Mosaic variegated aneuploidy syndrome 2 (NCIt: C168989)
Mosaic variegated aneuploidy syndrome (ORDO: Orphanet_1052)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=30804344; DOI=10.1038/s41467-019-08862-2; PMCID=PMC6389942
Koki Watanabe, Daisuke Takao, Kei K. Ito, Mikiko Takahashi, Daiju Kitagawa;
The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
Nat. Commun. 10:931.1-931.13(2019)

Cross-references
Cell line collections (Providers) Coriell; GM21654
Cell line databases/resources CLO; CLO_0013970
Encyclopedic resources Wikidata; Q54852057
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11