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Cellosaurus (CVCL_D3PV)

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Comments Population: Caucasian; French.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2770; DES; Simple_edited; p.Arg406Trp (c.1216C>T); ClinVar=VCV000016826; Zygosity=Heterozygous; Note=By CRISP/Cas9 (PubMed=38522388).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5Q5 (ITXi006-A)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1