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Cellosaurus ND50076 (CVCL_SA22)

[Text version]
Cell line name ND50076
Accession CVCL_SA22
Resource Identification Initiative To cite this cell line use: ND50076 (RRID:CVCL_SA22)
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:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (NHCDR=ND50076).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A9SR (F09229)
Sex of cell Male
Age at sampling 47Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50076
Encyclopedic resources Wikidata; Q54930298
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11