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Cellosaurus ND41180 (CVCL_UF69)

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Cell line name ND41180
Accession CVCL_UF69
Resource Identification Initiative To cite this cell line use: ND41180 (RRID:CVCL_UF69)
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=ND41180).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

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; ND41180 - Discontinued
Encyclopedic resources Wikidata; Q98127497
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number11