ID   UKBi011-A-4
AC   CVCL_RM83
SY   APOE-3/4; ApoE 3/4
DR   BioSamples; SAMEA104243177
DR   EBiSC; UKBi011-A-4
DR   ECACC; 66540620
DR   hPSCreg; UKBi011-A-4
DR   Wikidata; Q54990271
RX   PubMed=33556820;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 613; APOE; Simple; p.Cys130Arg (c.388T>C); ClinVar=VCV000017864; Zygosity=Heterozygous (PubMed=33556820).
CC   Sequence variation: Mutation; HGNC; 613; APOE; Simple_corrected; p.Cys130Arg (c.388T>C); ClinVar=VCV000017864; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33556820).
CC   Discontinued: EBiSC; UKBi011-A-4; true.
CC   Discontinued: ECACC; 66540620; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2866; Alzheimer's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_LE34 ! UKBi011-A
SX   Male
AG   80Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 7
//
RX   PubMed=33556820; DOI=10.1016/j.scr.2021.102180;
RA   Schmid B., Holst B., Clausen C., Bahnassawy L., Reinhardt P.,
RA   Bakker M.H.M., Diaz-Guerra E., Vicario-Abejon C., Martino-Adami P.V.,
RA   Thoenes M., Ramirez A., Fliessbach K., Grezella C., Brustle O.,
RA   Peitz M., Ebneth A., Cabrera-Socorro A.;
RT   "Generation of a set of isogenic iPSC lines carrying all APOE genetic
RT   variants (E2/E3/E4) and knock-out for the study of APOE biology in
RT   health and disease.";
RL   Stem Cell Res. 52:102180-102180(2021).
//