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Cellosaurus AIW002-02/TARDBP-A382T (CVCL_E6LJ)

[Text version]
Cell line name AIW002-02/TARDBP-A382T
Synonyms TARDBP-A382T/AIW002-02
Accession CVCL_E6LJ
Resource Identification Initiative To cite this cell line use: AIW002-02/TARDBP-A382T (RRID:CVCL_E6LJ)
Comments From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11571; TARDBP; Simple_edited; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Unspecified; Note=By CRISPR/Cas9 (C-BIG).
Disease Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0JY (CBIGi001-A)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Web pages Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1