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Cellosaurus ND50049 (CVCL_RY34)

[Text version]
Cell line name ND50049
Accession CVCL_RY34
Resource Identification Initiative To cite this cell line use: ND50049 (RRID:CVCL_RY34)
Comments Population: Caucasian; Greek.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (from parent cell line).
Disease Parkinson disease 1, autosomal dominant (NCIt: C198602)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RY33 (ND40996)
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50049
Encyclopedic resources Wikidata; Q54930271
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number9