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Cellosaurus (CVCL_V114)

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Comments From: King's College London; London; United Kingdom.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0222.
Registration: UK Stem Cell Bank (UKSCB); R-14-014, Steering comm. appl. SCSC11-49.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=27345977).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number22