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Cellosaurus NH50140 (CVCL_UW84)

[Text version]
Cell line name NH50140
Accession CVCL_UW84
Resource Identification Initiative To cite this cell line use: NH50140 (RRID:CVCL_UW84)
Comments Population: Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11179; SOD1; Simple_corrected; p.His44Arg (c.131A>G) (H43R); ClinVar=VCV000014756; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50140).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RY49 (ND50068)
Sex of cell Female
Age at sampling 35Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50140
Encyclopedic resources Wikidata; Q98127564
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10