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Cellosaurus UQi001-A-1 (CVCL_D0P9)

[Text version]
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)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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
Tracey T.J., Jiang L., Gill M.K., Ranie S.N., Ovchinnikov D.A., Wolvetang E.J., Ngo S.T.
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)

Cross-references
Cell line databases/resources hPSCreg; UQi001-A-1
Biological sample resources BioSamples; SAMEA113429835
Encyclopedic resources Wikidata; Q123033758
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4