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Cellosaurus GM28573 (CVCL_D6Y0)

[Text version]
Cell line name GM28573
Accession CVCL_D6Y0
Resource Identification Initiative To cite this cell line use: GM28573 (RRID:CVCL_D6Y0)
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:20093; ADSS1; Simple; p.Asp261Asn (c.781G>A) (p.Asp304Asn, c.910G>A); ClinVar=VCV000243025; Zygosity=Homozygous (Coriell=GM28573).
Disease Distal myopathy-5 (NCIt: C206521)
Adenylosuccinate synthetase-like 1-related distal myopathy (ORDO: Orphanet_482601)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 19Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28573
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2