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Cellosaurus NH50306 (CVCL_A9S1)

[Text version]
Cell line name NH50306
Accession CVCL_A9S1
Resource Identification Initiative To cite this cell line use: NH50306 (RRID:CVCL_A9S1)
Comments Population: Caucasian; Italian.
Characteristics: Non-edited control for NH50305 (Cellosaurus=CVCL_A9S0).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous (NHCDR=NH50306).
Disease Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YP97 (NH50217)
Sex of cell Female
Age at sampling 62Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50306
Encyclopedic resources Wikidata; Q102114622
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8