Cellosaurus cell line UQi001-A-1 (CVCL

Cellosaurus UQi001-A-1 (CVCL_D0P9)

Cross-references
Cell line name	UQi001-A-1
Synonyms	C11-TDP43-A382T
Accession	CVCL_D0P9
Resource Identification Initiative	To cite this cell line use: UQi001-A-1 (RRID:CVCL_D0P9)
Comments	From: Australian Institute for Bioengineering and Nanotechnology, University of Queensland; Brisbane; Australia. Population: Caucasian. Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471. Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations	Mutation; HGNC; HGNC:11571; TARDBP; Simple_edited; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37315423).
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_D0P8 (UQi001-A)
Sex of cell	Male
Age at sampling	<1M
Category	Induced pluripotent stem cell
Publications	PubMed=37315423; DOI=10.1016/j.scr.2023.103137 Timothy James Tracey, Leanne Jiang, Melinder K. Gill, Samara N. Ranie, Dmitry A. Ovchinnikov, Ernst J. Wolvetang, Shyuan T. Ngo; Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation. Stem Cell Res. 70:103137-103137(2023)
Cell line databases/resources	hPSCreg; UQi001-A-1
Biological sample resources	BioSamples; SAMEA113429835
Encyclopedic resources	Wikidata; Q123033758
Entry history
Entry creation	05-Oct-2023
Last entry update	10-Apr-2025
Version number	5