Cellosaurus logo
expasy logo

Cellosaurus ND38477 (CVCL_Y812)

[Text version]
Cell line name ND38477
Accession CVCL_Y812
Resource Identification Initiative To cite this cell line use: ND38477 (RRID:CVCL_Y812)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Asn52Metfs*29 (c.155delA) (255delA); ClinVar=VCV000536457; Zygosity=Heterozygous (Coriell=ND38477).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3-4del; Zygosity=Heterozygous (Coriell=ND38477).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y811 (ND29543)
Sex of cell Male
Age at sampling 50Y
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; ND38477 - Discontinued
NHCDR; ND38477
Cell line databases/resources SKIP; SKIP001371
SKIP; SKIP004702
Encyclopedic resources Wikidata; Q54930063
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16