Cellosaurus 7889SA PSEN1(M146V/M146V)-iCas9 (CVCL_E7GC)
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 |
|
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 |
Entry history | |
Entry creation | 10-Apr-2025 |
Last entry update | 10-Apr-2025 |
Version number | 1 |