ID   L282F-hiPSC
AC   CVCL_IJ22
DR   SKIP; SKIP001291
DR   Wikidata; Q54901005
RX   PubMed=27789396;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Leu282Phe (c.844C>T); Zygosity=Heterozygous (PubMed=27789396).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Male
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=27789396; DOI=10.1016/j.scr.2016.09.016;
RA   Poon A., Li T., Pires C., Nielsen T.T., Nielsen J.E., Holst B.,
RA   Dinnyes A., Hyttel P., Freude K.K.;
RT   "Derivation of induced pluripotent stem cells from a familial
RT   Alzheimer's disease patient carrying the L282F mutation in presenilin
RT   1.";
RL   Stem Cell Res. 17:470-473(2016).
//