ID   AIW002-02/TARDBP-A382T
AC   CVCL_E6LJ
SY   TARDBP-A382T/AIW002-02
WW   Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
CC   From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11571; TARDBP; Simple_edited; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Unspecified; Note=By CRISPR/Cas9 (C-BIG).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C0JY ! CBIGi001-A
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//