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Cellosaurus GM28478 (CVCL_D3AD)

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Cell line name GM28478
Accession CVCL_D3AD
Resource Identification Initiative To cite this cell line use: GM28478 (RRID:CVCL_D3AD)
Comments Population: Caucasian; English.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11581; TBCD; Simple; p.Arg323Ter (c.967C>T); ClinVar=VCV000692021; Zygosity=Heterozygous (Coriell=GM28478).
  • Mutation; HGNC; HGNC:11581; TBCD; Simple; p.Thr1046Lys (c.3137C>A); ClinVar=VCV002504395; Zygosity=Heterozygous (Coriell=GM28478).
Disease Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (NCIt: C202602)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORDO: Orphanet_496641)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28478
Encyclopedic resources Wikidata; Q127380918
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3