ID   UOWi008-A
AC   CVCL_VP86
SY   RBC-10; C-10; ALS/FTD1
DR   hPSCreg; UOWi008-A
DR   Wikidata; Q98134331
RX   PubMed=32887382;
CC   From: University of Wollongong; Wollongong; Australia.
CC   Sequence variation: Mutation; HGNC; 28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=32887382).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   66Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32887382; DOI=10.3390/cells9092018;
RA   Munoz S.S., Engel M., Balez R., Do-Ha D., Cabral-da-Silva M.C.,
RA   Hernandez D., Berg T., Fifita J.A., Grima N., Yang S., Blair I.P.,
RA   Nicholson G., Cook A.L., Hewitt A.W., Pebay A., Ooi L.;
RT   "A simple differentiation protocol for generation of induced
RT   pluripotent stem cell-derived basal forebrain-like cholinergic neurons
RT   for Alzheimer's disease and frontotemporal dementia disease
RT   modeling.";
RL   Cells 9:2018.1-2018.17(2020).
//