ID   PSEN2-141 N-hiPSC
AC   CVCL_C0CW
DR   Wikidata; Q114312686
RX   PubMed=34634760;
CC   From: IxCells Biotechnologies, LLC; San Diego; USA.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:9509; PSEN2; Simple_corrected; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34634760).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C0CV ! PSEN2-N141I-hiPSC
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34634760; DOI=10.1016/j.scr.2021.102552;
RA   Marei H.E., Althani A., Afifi N., Hasan A., Caceci T., Pozzoli G.,
RA   Cenciarelli C.;
RT   "Generation of gene edited hiPSC from familial Alzheimer's disease
RT   patient carrying N141I missense mutation in presenilin 2.";
RL   Stem Cell Res. 56:102552-102552(2021).
//