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Cellosaurus ND41180 (CVCL_UF69)

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