ID   H9-iCas9-APP(swe/swe)
AC   CVCL_E7G5
SY   H9-iCas9-APPswe/swe
RX   PubMed=38917806;
CC   Characteristics: Cell line with robust Dox-inducible expression of Cas9 and an edited homozygous APP(Swe) mutation (PubMed=38917806).
CC   Characteristics: Using TALEN two constructs SA-2A-HygR-Cas9-TRE and SA-2A-Neo-M2rtTA were introduced in the AAVS1 safe harbor locus, one in each allele (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple_edited; p.Lys670_Met671delinsAsnLeu (c.2010_2011inv) (c.2010_2011delGAinsTC); ClinVar=VCV000018093; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38917806).
CC   Genetic integration: Method=TALEN; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
CC   Genetic integration: Method=TALEN; Gene=UniProtKB; Q99ZW2; Streptomyces pyogenes Cas9.
CC   Genetic integration: Method=TALEN; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C146894; Alzheimer's disease 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E7G4 ! H9-iCas9
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=38917806; DOI=10.1016/j.stem.2024.06.001; PMCID=PMC11405001;
RA   Saurat N., Minotti A.P., Rahman M.T., Sikder T., Zhang C., Cornacchia D.,
RA   Jungverdorben J., Ciceri G., Betel D., Studer L.P.;
RT   "Genome-wide CRISPR screen identifies neddylation as a regulator of
RT   neuronal aging and AD neurodegeneration.";
RL   Cell Stem Cell 31:1162-1174.e8(2024).
//