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Cellosaurus ND29563 (CVCL_Y894)

[Text version]
Cell line name ND29563
Accession CVCL_Y894
Resource Identification Initiative To cite this cell line use: ND29563 (RRID:CVCL_Y894)
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:4010; FUS; Simple; p.Arg522Arg (c.1566G>A); ClinVar=VCV000540280; Zygosity=Unspecified; Note=Mislocalized protein (NHCDR=ND29563).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_Y825 (ND39034)
Sex of cell Male
Age at sampling 37Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND29563 - Discontinued
NHCDR; ND29563
Encyclopedic resources Wikidata; Q54929256
Entry history
Entry creation10-Apr-2015
Last entry update10-Apr-2025
Version number16