Table 1.
Reprogrammed PGPC iPSC Lines: Novel Genomic Variants (Overview)
| SNVs/Indels |
CNVs |
|||||
|---|---|---|---|---|---|---|
| All | Exonic | Non-synonymous | Loss of Function | All | Exonic | |
| PGPC_1 | ||||||
| Genome-wide | 1,622 | 1 | ||||
| All genes | 684 | 24 | 16 | 3 | 1 | 1 |
| OMIM genes | 133 | 5 | 4 | 1 | 0 | 0 |
| Constrained genesa | 204 | 7 | 7 | 3 | 0 | 0 |
| PGPC_3 | ||||||
| Genome-wide | 1,981 | 0 | ||||
| All genes | 847 | 19 | 12 | 1 | 0 | 0 |
| OMIM genes | 172 | 3 | 3 | 0 | 0 | 0 |
| Constrained genesa | 216 | 6 | 5 | 0 | 0 | 0 |
| PGPC_14 | ||||||
| Genome-wide | 1,235 | 1 | ||||
| All genes | 499 | 18 | 13 | 2 | 1 | 0 |
| OMIM genes | 104 | 3 | 2 | 0 | 1 | 0 |
| Constrained genesa | 150 | 8 | 8 | 2 | 1 | 0 |
| PGPC_17 | ||||||
| Genome-wide | 1,169 | 0 | ||||
| All genes | 466 | 23 | 14 | 1 | 0 | 0 |
| OMIM genes | 95 | 6 | 6 | 1 | 0 | 0 |
| Constrained genesa | 113 | 5 | 5 | 1 | 0 | 0 |
| PGPC17_11 MYBPC3_KO | ||||||
| Genome-wide | 917 | 1 | ||||
| All genes | 382 | 17 | 9 | 1 | 0 | 0 |
| OMIM genes | 85 | 4 | 2 | 0 | 0 | 0 |
| Constrained genesa | 35 | 7 | 4 | 0 | 0 | 0 |
PGPC1_73, PGPC3_75, PGPC14_26, and PGPC17_11 were compared with the sequence data obtained from whole blood. PGPC17_11 MYBPC3_KO was compared with the PGPC17_11 reprogrammed line. CNV, copy-number variant; indel, insertion/deletion; SNV, single-nucleotide variant.
a
pLI>0.9 (http://exac.broadinstitute.org/).