ID   BIOTi001-A
AC   CVCL_GP76
SY   BIOT-7183-PSEN1
DR   BioSamples; SAMEA4999067
DR   hPSCreg; BIOTi001-A
DR   Wikidata; Q54796894
RX   PubMed=27558604;
CC   From: BioTalentum, Ltd; Godollo; Hungary.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Val89Leu (c.265G>T); ClinVar=VCV000021027; Zygosity=Heterozygous (PubMed=27558604).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 13
//
RX   PubMed=27558604; DOI=10.1016/j.scr.2016.05.019;
RA   Nemes C., Varga E., Tancos Z., Bock I., Francz B., Kobolak J.,
RA   Dinnyes A.;
RT   "Establishment of PSEN1 mutant induced pluripotent stem cell (iPSC)
RT   line from an Alzheimer's disease (AD) female patient.";
RL   Stem Cell Res. 17:69-71(2016).
//