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Cellosaurus ND40077 (CVCL_EZ53)

[Text version]
Cell line name ND40077
Accession CVCL_EZ53
Resource Identification Initiative To cite this cell line use: ND40077 (RRID:CVCL_EZ53)
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.Arg521Gly (c.1561C>G); ClinVar=VCV000016222; Zygosity=Heterozygous (NHCDR=ND40077).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YP87 (NH50211)CVCL_YP88 (NH50212)CVCL_YP89 (NH50213)
Sex of cell Female
Age at sampling 47Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40077 - Discontinued
NHCDR; ND40077
Encyclopedic resources Wikidata; Q54930158
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12