ID   INEUi001-A
AC   CVCL_C9LF
SY   FBDC9 1.3
DR   BioSamples; SAMEA112354813
DR   hPSCreg; INEUi001-A
DR   Wikidata; Q123032701
RX   PubMed=36963214;
CC   From: Instituto de Neurociencias; Buenos Aires; Argentina.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; 28337; C9orf72; Unexplicit; Deletion in GGGGCC repeat; Zygosity=Heterozygous (PubMed=36963214).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36963214; DOI=10.1016/j.scr.2023.103076;
RA   Nievas M., Romorini L., Isaja L., Clas G.S., Rodriguez-Varela S.,
RA   Mucci S., Itzcovich T., de Ambrosi B., Scassa M.E., Sevlever G.E.,
RA   Surace E.I., Marazita M.C.;
RT   "Generation of a human induced pluripotent stem cell line (INEUi001-A)
RT   from an amyotrophic lateral sclerosis/frontotemporal dementia patient
RT   with a C9ORF72 G4C2 genotype of <2 (GGGGCCG) and 10 repeats.";
RL   Stem Cell Res. 69:103076-103076(2023).
//