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Cellosaurus ND50068 (CVCL_RY49)

[Text version]
Cell line name ND50068
Accession CVCL_RY49
Resource Identification Initiative To cite this cell line use: ND50068 (RRID:CVCL_RY49)
Comments Population: Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11179; SOD1; Simple; p.His44Arg (c.131A>G) (H43R); ClinVar=VCV000014756; Zygosity=Heterozygous (NHCDR=ND50068).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UW84 (NH50140)CVCL_UW85 (NH50141)
Originate from same individual CVCL_UK09 ! CS04iALS-SOD1H44Rn3
Sex of cell Female
Age at sampling 35Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50068
Encyclopedic resources Wikidata; Q54930290
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number11