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Cellosaurus GM28225 (CVCL_D3AA)

[Text version]
Cell line name GM28225
Accession CVCL_D3AA
Resource Identification Initiative To cite this cell line use: GM28225 (RRID:CVCL_D3AA)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:30778; GATAD2B; Simple; p.Ser135Argfs*17 (c.405_406delTCinsG); Zygosity=Heterozygous (Coriell=GM28225).
Disease Mental retardation, autosomal dominant 18 (NCIt: C202606)
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORDO: Orphanet_363686)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28225
Encyclopedic resources Wikidata; Q127380913
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3