Table 1.
Fibroblasts from female RTT patients used to derive iPSCs
Name | Age, years | Nucleotide change | Amino acid change | Affected domain | Representatitve iPSC lines |
RTT1 | 5 | 473C > T | T158M | MBD | RTT1-iPS-13w |
GM17880 | RTT1-iPS-15m | ||||
RTT2 | 5 | 730C > T | Q244X | TRD/CTD | RTT2-iPS-16w |
GM16548 | RTT2-iPS-12m | ||||
RTT3 | 25 | 705delG | E235fs | TRD/CTD | RTT3-iPS-42w |
GM07982 | RTT3-iPS-46m | ||||
RTT4 | 8 | 916C > T | R306C | TRD | RTT4-iPS-24w |
GM11270 | RTT4-iPS-19bi | ||||
RTT5 | 5 | 1461A > G | X487W | CTD | RTT5-iPS-31w |
GM17567 | RTT5-iPS-32bi |