ID   MUNIi007-A
AC   CVCL_A4PF
SY   ADF81; fAD3
DR   BioSamples; SAMEA7873289
DR   hPSCreg; MUNIi007-A
DR   Wikidata; Q105510228
RX   PubMed=34088008;
CC   From: Masaryk University; Brno; Czech Republic.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 9509; PSEN2; Simple; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; 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; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_T872 ! AG09908
SX   Female
AG   81Y
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).
//