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Cellosaurus NH50290 (CVCL_YU02)

[Text version]
Cell line name NH50290
Accession CVCL_YU02
Resource Identification Initiative To cite this cell line use: NH50290 (RRID:CVCL_YU02)
Comments Population: Cape Verdian.
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.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Heterozygous (NHCDR=NH50290).
  • Mutation; HGNC; HGNC:4010; FUS; Simple_corrected; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50290).
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 Parent: CVCL_YP42 (NH50192)
Sex of cell Female
Age at sampling 50Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50290
Encyclopedic resources Wikidata; Q98127754
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9