Table 1 of Ivings, Mol Vis 2008; 14:2357-2366.
Group | Cell line | Mutation | Sex | Age |
---|---|---|---|---|
Control | AG0318 | Control | M | 22 |
AG0300 | Control | F | 32 | |
AG0309 | Control | F | 34 | |
AG0267 | Control | M | 46 | |
AG0326 | Control | F | 58 | |
AG0261 | Control | F | 77 | |
AGO296 | Control | F | 56 | |
PRPF31 Carrier | AG0353 | Exon 11, 11 bp Del, nt 1115–1125 | M | 22 |
AG0311 | Exon 11, 11 bp Del, nt 1115–1125 | F | 23 | |
AG0298 | Exon 11, 11 bp Del, nt 1115–1125 | M | 58 | |
PRPF31 Severe | AG0306 | Exon 11, 11 bp Del, nt 1115–1125 | F | 47 |
AG0325 | Exon 11, 11 bp Del, nt 1115–1125 | M | 56 | |
HG0003 | IVS 6 +3 A>G | F | 62 | |
HG0005 | Whole gene deletion | F | 65 | |
AG0316 | Exon 11, 11 bp Del, nt 1115–1125 | F | 72 | |
PRPF8 | HG0007 | H2309P | F | 33 |
HG0008 | H2309P | F | 67 | |
HG0009 HG0011 HG0012 | H2309P | F | 72 | |
H2309R | F | 60 | ||
H2309R | F | 30 |