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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
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)

PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022
Lin L., Goke J., Cukuroglu E., Dranias M.R., VanDongen A.M.J., Stanton L.W.
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