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Cellosaurus ND50081 (CVCL_SA27)

[Text version]
Cell line name ND50081
Accession CVCL_SA27
Resource Identification Initiative To cite this cell line use: ND50081 (RRID:CVCL_SA27)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (NHCDR=ND50081).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y965 (GM00232)
Sex of cell Male
Age at sampling 7M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50081
Encyclopedic resources Wikidata; Q54930309
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number10