ID   IRMBi002-A
AC   CVCL_VD87
SY   AD-APP hiPSC
DR   BioSamples; SAMEA4984140
DR   hPSCreg; IRMBi002-A
DR   Wikidata; Q54898251
RX   PubMed=31004935;
CC   From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Asp694Asn (c.2080G>A); ClinVar=VCV000018101; Zygosity=Heterozygous (PubMed=31004935).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Fibroblast of foreskin; CL=CL_1001608.
DI   NCIt; C146894; Familial Alzheimer's disease, type 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=31004935; DOI=10.1016/j.scr.2019.101438;
RA   Auboyer L., Monzo C., Wallon D., Rovelet-Lecrux A., Gabelle A.,
RA   Gazagne I., Cacheux V., Lehmann S., Crozet C.;
RT   "Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from
RT   an Alzheimer's disease patient carrying a D694N mutation in the APP
RT   gene.";
RL   Stem Cell Res. 37:101438-101438(2019).
//