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Cellosaurus ND41016 (CVCL_EZ71)

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Cell line name ND41016
Accession CVCL_EZ71
Resource Identification Initiative To cite this cell line use: ND41016 (RRID:CVCL_EZ71)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Homozygous (NHCDR=ND41016).
Disease Parkinson disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Finite cell line
Publications

PubMed=36130205; DOI=10.1093/hmg/ddac233; PMCID=PMC9941838
Laura J. Smith, Magdalena Maria Bolsinger, Kai-Yin Chau, Matthew E. Gegg, Anthony Henry Vernon Schapira;
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
Hum. Mol. Genet. 32:773-789(2023)

Cross-references
Cell line collections (Providers) NHCDR; ND41016
Encyclopedic resources Wikidata; Q54930192
Entry history
Entry creation26-Sep-2016
Last entry update10-Apr-2025
Version number15