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Cellosaurus 7889SA PSEN1(M146V/M146V)-iCas9 (CVCL_E7GC)

[Text version]
Cell line name 7889SA PSEN1(M146V/M146V)-iCas9
Synonyms 7889SA-iCas9-PSENM146V/M146V
Accession CVCL_E7GC
Resource Identification Initiative To cite this cell line use: 7889SA PSEN1(M146V/M146V)-iCas9 (RRID:CVCL_E7GC)
Comments Population: Caucasian; Italian.
Characteristics: Cell line with robust Dox-inducible expression of Cas9 and an edited homozygous PSEN1(M146V) mutation (PubMed=38917806).
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).
Genetic integration: Method=TALEN; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
Genetic integration: Method=TALEN; Gene=UniProtKB; Q99ZW2; Streptomyces pyogenes Cas9.
Genetic integration: Method=TALEN; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Donor information: At sampling donor was not affected with Alzheimer disease but has a 25% risk (from parent cell line).
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Met146Val (c.436A>G); ClinVar=VCV000018129; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38917806).
Disease Alzheimer's disease 3 (NCIt: C123412)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E7G9 (7889SA PSEN1(M146V/M146V))
Sex of cell Male
Age at sampling 17Y8M
Category Induced pluripotent stem cell
Publications

PubMed=38917806; DOI=10.1016/j.stem.2024.06.001; PMCID=PMC11405001
Saurat N., Minotti A.P., Rahman M.T., Sikder T., Zhang C., Cornacchia D., Jungverdorben J., Ciceri G., Betel D., Studer L.P.
Genome-wide CRISPR screen identifies neddylation as a regulator of neuronal aging and AD neurodegeneration.
Cell Stem Cell 31:1162-1174.e8(2024)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1