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Cellosaurus ND40599 (CVCL_UF62)

[Text version]
Cell line name ND40599
Accession CVCL_UF62
Resource Identification Initiative To cite this cell line use: ND40599 (RRID:CVCL_UF62)
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=Heterozygous (Coriell=ND40599).
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 Male
Age at sampling 81Y
Category Induced pluripotent stem cell
Publications

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; ND40599 - Discontinued
Encyclopedic resources Wikidata; Q98127487
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10