Cellosaurus logo
expasy logo

Cellosaurus NH50346 (CVCL_B6I5)

[Text version]
Cell line name NH50346
Accession CVCL_B6I5
Resource Identification Initiative To cite this cell line use: NH50346 (RRID:CVCL_B6I5)
Comments Population: Caucasian.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (NHCDR=NH50346).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B6I4 ! NH50345
CVCL_B6I6 ! NH50347
Sex of cell Male
Age at sampling 55Y2M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50346
Encyclopedic resources Wikidata; Q112129441
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6