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Cellosaurus (CVCL_1380)

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Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23594; VPS13C; Simple_edited; c.8445+2T>G; ClinVar=VCV000222067; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation (JAX).
Disease Parkinson disease 23, autosomal recessive, early onset (NCIt: C203536)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5P3 (KOLF2.1J)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1