ID   UQi001-A-1
AC   CVCL_D0P9
SY   C11-TDP43-A382T
DR   BioSamples; SAMEA113429835
DR   hPSCreg; UQi001-A-1
DR   Wikidata; Q123033758
RX   PubMed=37315423;
CC   From: Australian Institute for Bioengineering and Nanotechnology, University of Queensland; Brisbane; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple_edited; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37315423).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Fibroblast of foreskin; CL=CL_1001608.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D0P8 ! UQi001-A
SX   Male
AG   <1M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37315423; DOI=10.1016/j.scr.2023.103137;
RA   Tracey T.J., Jiang L., Gill M.K., Ranie S.N., Ovchinnikov D.A.,
RA   Wolvetang E.J., Ngo S.T.;
RT   "Generation of a human induced pluripotent stem cell line (UQi001-A-1)
RT   edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP
RT   c.1144G > A (p.A382T) missense mutation.";
RL   Stem Cell Res. 70:103137-103137(2023).
//