ID   M146I-hiPSC
AC   CVCL_DQ95
DR   SKIP; SKIP001286
DR   Wikidata; Q54903473
RX   PubMed=27345998;
CC   Sequence variation: Heterozygous for PSEN1 p.Met146Ile (c.438G>A) (PubMed=27345998).
DI   NCIt; C123412; Familial Alzheimer's disease, type 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 12-03-20; Version: 5
//
RX   PubMed=27345998; DOI=10.1016/j.scr.2016.01.001;
RA   Li T., Pires C., Nielsen T.T., Waldemar G., Hjermind L.E.,
RA   Nielsen J.E., Dinnyes A., Holst B., Hyttel P., Freude K.K.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from an
RT   Alzheimer's disease patient carrying a M146I mutation in PSEN1.";
RL   Stem Cell Res. 16:334-337(2016).
//