Cellosaurus logo
expasy logo

Cellosaurus NH50292 (CVCL_YU04)

[Text version]
Cell line name NH50292
Accession CVCL_YU04
Resource Identification Initiative To cite this cell line use: NH50292 (RRID:CVCL_YU04)
Comments Population: Cape Verdian.
Characteristics: Non-edited control for NH50290 (Cellosaurus=CVCL_YU02) and NH50291 (Cellosaurus=CVCL_YU03).
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=Homozygous (NHCDR=NH50292).
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; NH50292
Encyclopedic resources Wikidata; Q98127756
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9