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Cellosaurus GM28584 (CVCL_D6Y3)

[Text version]
Cell line name GM28584
Accession CVCL_D6Y3
Resource Identification Initiative To cite this cell line use: GM28584 (RRID:CVCL_D6Y3)
Comments Population: Bangladeshi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous (Coriell=GM28584).
Disease Schuurs-Hoeijmakers syndrome (NCIt: C150555)
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome (ORDO: Orphanet_329224)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B0IA ! GM28206
CVCL_B0IB ! GM28210
Sex of cell Female
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28584
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2