ID   7889SA PSEN1(M146V/M146V)-iCas9
AC   CVCL_E7GC
SY   7889SA-iCas9-PSENM146V/M146V
RX   PubMed=38917806;
CC   Population: Caucasian; Italian.
CC   Characteristics: Cell line with robust Dox-inducible expression of Cas9 and an edited homozygous PSEN1(M146V) 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 (PubMed=38917806).
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Met146Val (c.436A>G); ClinVar=VCV000018129; 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   Donor information: At sampling donor was not affected with Alzheimer disease but has a 25% risk (from parent cell line).
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_E7G9 ! 7889SA PSEN1(M146V/M146V)
SX   Male
AG   17Y8M
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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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).
//