ID   MUNIi005-A
AC   CVCL_A4PD
SY   fAD1
DR   BioSamples; SAMEA7873285
DR   hPSCreg; MUNIi005-A
DR   Wikidata; Q105510220
RX   PubMed=34088008;
CC   From: Masaryk University; Brno; Czech Republic.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Heterozygous (PubMed=34088008).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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)
HI   CVCL_H793 ! AG06840
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=34088008; DOI=10.1016/j.scr.2021.102379;
RA   Raska J., Hribkova H., Klimova H., Fedorova V., Barak M., Barta T.,
RA   Pospisilova V., Vochyanova S., Vanova T., Bohaciakova D.;
RT   "Generation of six human iPSC lines from patients with a familial
RT   Alzheimer's disease (n = 3) and sex- and age-matched healthy controls
RT   (n = 3).";
RL   Stem Cell Res. 53:102379-102379(2021).
//