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Cellosaurus NH50348 (CVCL_B6I7)

[Text version]
Cell line name NH50348
Accession CVCL_B6I7
Resource Identification Initiative To cite this cell line use: NH50348 (RRID:CVCL_B6I7)
Comments Population: Caucasian.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (NHCDR=NH50348).
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_B6I8 ! NH50349
CVCL_B6I9 ! NH50350
Sex of cell Female
Age at sampling 67Y2M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50348
Encyclopedic resources Wikidata; Q112129443
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6