ID   UOWi003-A
AC   CVCL_VF29
SY   6848.2; iPSC 6848.2; FAD1
DR   hPSCreg; UOWi003-A
DR   Wikidata; Q54991427
RX   PubMed=30138848;
RX   PubMed=32887382;
CC   From: University of Wollongong; Wollongong; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Heterozygous (PubMed=30138848).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D534 ! AG06848
SX   Female
AG   55Y6M
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=30138848; DOI=10.1016/j.scr.2018.08.006;
RA   Munoz S.S., Balez R., Cabral-da-Silva M.C., Berg T., Engel M.,
RA   Bax M.C., Do-Ha D., Stevens C.H., Greenough M., Bush A.I., Ooi L.;
RT   "Generation and characterization of human induced pluripotent stem
RT   cell lines from a familial Alzheimer's disease PSEN1 A246E patient and
RT   a non-demented family member bearing wild-type PSEN1.";
RL   Stem Cell Res. 31:227-230(2018).
//
RX   PubMed=32887382; DOI=10.3390/cells9092018; PMCID=PMC7564334;
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).
//