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Cellosaurus NH50305 (CVCL_A9S0)

[Text version]
Cell line name NH50305
Accession CVCL_A9S0
Resource Identification Initiative To cite this cell line use: NH50305 (RRID:CVCL_A9S0)
Comments Population: Caucasian; Italian.
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_corrected; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50305).
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; NH50305
Encyclopedic resources Wikidata; Q102114620
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8