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Cellosaurus GM28368 (CVCL_C0LU)

[Text version]
Cell line name GM28368
Accession CVCL_C0LU
Resource Identification Initiative To cite this cell line use: GM28368 (RRID:CVCL_C0LU)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1349; SAMD9L; Simple; p.Arg986His (c.2957G>A); ClinVar=VCV001190635; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28368).
Disease Ataxia-pancytopenia syndrome (NCIt: C176909)
Ataxia-pancytopenia syndrome (ORDO: Orphanet_2585)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28368
Encyclopedic resources Wikidata; Q112929606
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6