isogenic control to SHOX2 c.849C>A, reverse gene-edited using gRNA-2
Homo sapiens
To  determine if the sib-selection process indeed enriched the targeted cells,  the initial HDR efficiency had to be quantified. Therefore, SHOX2 c.849C>A  or SHOX2 c.*28T>C mutations were re-introduced into the generated cell  line using the same Cas9 enzyme batch and gRNAs but replacing the ssODNs by  analogous versions which would lead to the insertion of the point mutations  rather than to their repair. Seventy-two hours after transfection, the  frequency of HDR events was determined by NGS.
isolate
derived by gene-correction of SHOX2 c.849C>A in patient-specific hiPSCs
age
66
biomaterial_provider
Alessandra Moretti, First Department of Medicine, Cardiology, Klinikum rechts der Isar Technical University of Munich, 81675 Munich, Bavaria, Germany
sex
male
tissue
blood sample
cell_line
SHOX2 c.849C>A isogenic control
cell_type
induced pluripotent stem cells
disease
atrial fibrillation
disease_stage
persistent
ethnicity
white
health_state
diseased
karyotype
46,XY
phenotype
full pluripotency capacity, normal karyotype
race
caucasian
sample_type
single cell-derived clone
strain
hiPSC
genotype
SHOX2 c.849C>A (-/-)
geo_loc_name
Germany
growth_protocol
StemFit medium, according to manufacturer's recommendation
store_cond
extraction from cultured cells, stored a -20C
BioSampleModel
Human