Table 1.
Summary of the Control Samples and Cell Lines Used in this Study, Listed According to the Source and the Range of CGG Repeats
| Component | Coriell cat# | CGG repeats | Used in the study |
|---|---|---|---|
| Process control | NA20239 | 20, 199 | Pooled mixture of cell lines used to calibrate repeat sizing between instruments and laboratories |
| NA07541 | 29, 31 | ||
| NA20230 | 54 | ||
| NA06891 | 120 | ||
| 20% 940 | NA06895 | 23 | Mock mosaic sample used for assessment of instrument sensitivity |
| NA09237 | >200 | ||
| Methylation standards | NA06905 | 23, 78 | Carrier DNA background for methylation standards |
| NA04025 | >200 (645 CGG) | PCR products from this cell line were treated with HpaII methyltransferase and blended to create methylation standards | |
| Digestion and reference controls | DigCtrl | ∼212 bp (“−6 CGG”) | Plasmid DNA spiked into each sample to be detected in FAM but decreased in HEX |
| RefCtrl | ∼230 bp (“0 CGG”) | Plasmid DNA spiked into each sample | |
| AmplideX process control | 45913 | 18, 30, 32, 56, 85, 1, 16, and >200 | Prepooled cell-line mixture generating alleles used for instrument repeat sizing correction and as a routine batch control |