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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 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; 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