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Cellosaurus (CVCL_D5FR)

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Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Arg557Ter (c.1671C>T); ClinVar=VCV000050923; Zygosity=Heterozygous (PubMed=36403546).
  • Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Asp618Asn (c.1854G>A); Zygosity=Heterozygous (PubMed=36403546).
Disease Leigh disease (NCIt: C84814)
NADH dehydrogenase deficiency (NCIt: C98994)
Isolated complex I deficiency (ORDO: Orphanet_2609)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4