ID   IRMBi001-A
AC   CVCL_VD86
SY   AD-PS1 hiPSC
DR   BioSamples; SAMEA104618388
DR   hPSCreg; IRMBi001-A
DR   Wikidata; Q54898250
RX   PubMed=30677723;
CC   From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Gly217Asp (c.650G>A); ClinVar=VCV000098057; Zygosity=Heterozygous (PubMed=30677723).
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   54Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=30677723; DOI=10.1016/j.scr.2018.101381;
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 (IRMBi001-A) from an
RT   Alzheimer's disease patient carrying a G217D mutation in the PSEN1
RT   gene.";
RL   Stem Cell Res. 34:101381-101381(2019).
//