Table 1.
Name | Donor Identity | Genotype | Donor Age | Donor Gender | Donor Ancestry |
---|---|---|---|---|---|
C1 | healthy control 1 | wild type | 30 years | male | Japanese |
C2 | healthy sibling of P1 | heterozygous recessive PIEZO2 mutation c.4723C>T | 21 years | female | Bangladeshi |
P1 | PIEZO2 patient 1 | compound heterozygous PIEZO2 mutations c.4723C>T and c.5053C>T | 19 years | female | Japanese/European |
P2 | PIEZO2 patient 2 | compound heterozygous PIEZO2 mutations c.5054G>C and c.5053C>T | 10 years | female | Bangladeshi |
P2C | PIEZO2 patient 2 | CRISPR-Cas9-mediated PIEZO2 correction in patient 2 iPSCs | see P2 | ||
KO | healthy control 1 | CRISPR-Cas9-mediated PIEZO2 knockout in control 1 iPSCs | see C1 |