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Cellosaurus GM28328 (CVCL_D6XJ)

[Text version]
Cell line name GM28328
Accession CVCL_D6XJ
Resource Identification Initiative To cite this cell line use: GM28328 (RRID:CVCL_D6XJ)
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:19088; ASH1L; Simple; p.Ser1635Cysfs*18 (c.4902_4903del); ClinVar=VCV000962517; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28328).
Disease Intellectual developmental disorder, autosomal dominant 52 (NCIt: C206522)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28328
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2