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Cellosaurus GM28947 (CVCL_D6Z5)

[Text version]
Cell line name GM28947
Synonyms GM28947*B
Accession CVCL_D6Z5
Resource Identification Initiative To cite this cell line use: GM28947 (RRID:CVCL_D6Z5)
Comments Population: Indian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15766; ADNP; Simple; p.Ser738Phefs*6 (c.2212dupT); ClinVar=VCV001804918; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28947).
Disease Mental retardation, autosomal dominant 28 (NCIt: C160662)
ADNP syndrome (ORDO: Orphanet_404448)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D6XY (GM28570)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28947
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2