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Cellosaurus ND50072 (CVCL_RY51)

[Text version]
Cell line name ND50072
Accession CVCL_RY51
Resource Identification Initiative To cite this cell line use: ND50072 (RRID:CVCL_RY51)
Comments Population: Caucasian.
Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (NHCDR=ND50072).
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_W562 (GM09677)
Sex of cell Male
Age at sampling 1Y11M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50072
Encyclopedic resources Wikidata; Q54930294
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number12