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Cellosaurus ND50012 (CVCL_EZ89)

[Text version]
Cell line name ND50012
Accession CVCL_EZ89
Resource Identification Initiative To cite this cell line use: ND50012 (RRID:CVCL_EZ89)
Comments Population: Caucasian; Polish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (from parent cell line).
Disease Parkinson disease 6, early onset (NCIt: C184990)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_EY29 (ND40068)
Children:
CVCL_RY42 (ND50100)CVCL_RY43 (ND50101)
Sex of cell Female
Age at sampling 60Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50012
Cell line databases/resources SKIP; SKIP001614
Encyclopedic resources Wikidata; Q54930245
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12