ID   UQi008-A
AC   CVCL_D6K1
SY   M8
DR   BioSamples; SAMEA114591123
DR   hPSCreg; UQi008-A
DR   Wikidata; Q127384622
RX   PubMed=38796984;
CC   From: Australian Institute for Bioengineering and Nanotechnology, University of Queensland; Brisbane; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=38796984).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 3
//
RX   PubMed=38796984; DOI=10.1016/j.scr.2024.103447;
RA   Jiang L., Tracey T.J., Gill M.K., Howe S.L., Power D.T., Bharti V.,
RA   McCombe P.A., Henderson R.D., Steyn F.J., Ngo S.T.;
RT   "Generation of human induced pluripotent stem cell lines from
RT   sporadic, sporadic frontotemporal dementia, familial SOD1, and
RT   familial C9orf72 amyotrophic lateral sclerosis (ALS) patients.";
RL   Stem Cell Res. 78:103447-103447(2024).
//