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Cellosaurus ND40018 (CVCL_Y829)

[Text version]
Cell line name ND40018
Synonyms ND40018*C
Accession CVCL_Y829
Resource Identification Initiative To cite this cell line use: ND40018 (RRID:CVCL_Y829)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Homozygous (Coriell=ND40018).
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)
Sex of cell Female
Age at sampling 60Y
Category Induced pluripotent stem cell
Publications

PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343
Andrew J. Schwab, Allison D. Ebert;
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)

PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022
Lin Lin, Jonathan Goke, Engin Cukuroglu, Mark R. Dranias, Antonius M.J. VanDongen, Lawrence Walter Stanton;
Molecular features underlying neurodegeneration identified through in vitro modeling of genetically diverse Parkinson's disease patients.
Cell Rep. 15:2411-2426(2016)

Cross-references
Cell line collections (Providers) Coriell; ND40018 - Discontinued
NHCDR; ND40018
Cell line databases/resources SKIP; SKIP001372
SKIP; SKIP004717
Encyclopedic resources Wikidata; Q54930139
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number18