ID   NH50305
AC   CVCL_A9S0
DR   NHCDR; NH50305
DR   Wikidata; Q102114620
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:11571; TARDBP; Simple_corrected; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50305).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_YP97 ! NH50217
SX   Female
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 9
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