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Cellosaurus ND40019 (CVCL_Y830)

[Text version]
Cell line name ND40019
Synonyms ND40019*C
Accession CVCL_Y830
Resource Identification Initiative To cite this cell line use: ND40019 (RRID:CVCL_Y830)
Comments Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (NHCDR=ND40019).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_Y831 ! ND40020
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004
Schwab A.J., Ebert A.D.
Neurite aggregation and calcium dysfunction in iPSC-derived sensory neurons with Parkinson's disease-related LRRK2 G2019S mutation.
Stem Cell Reports 5:1039-1052(2015)

Cross-references
Cell line collections (Providers) Coriell; ND40019 - Discontinued
NHCDR; ND40019
Cell line databases/resources SKIP; SKIP001373
SKIP; SKIP004718
Encyclopedic resources Wikidata; Q54930140
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number16