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Cellosaurus GM28572 (CVCL_D6XZ)

[Text version]
Cell line name GM28572
Accession CVCL_D6XZ
Resource Identification Initiative To cite this cell line use: GM28572 (RRID:CVCL_D6XZ)
Comments Population: Indian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15766; ADNP; Simple; p.Ser738Phefs*6 (c.2212dupT); ClinVar=VCV001804918; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28572).
Disease Mental retardation, autosomal dominant 28 (NCIt: C160662)
ADNP syndrome (ORDO: Orphanet_404448)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6XY ! GM28570
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28572
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2