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Cellosaurus ND50083 (CVCL_SA29)

[Text version]
Cell line name ND50083
Accession CVCL_SA29
Resource Identification Initiative To cite this cell line use: ND50083 (RRID:CVCL_SA29)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (NHCDR=ND50083).
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_W564 (GM10684)
Sex of cell Female
Age at sampling 6M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50083
Encyclopedic resources Wikidata; Q54930311
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number10