Table 1.
Pipeline confirms 8 DJs in 3 known ROB cell lines and two control samples, where the DJ was karyotyped before. Remarks are from Coriell. *Reported from de Lima et al.14
| Sample | Sex | T2T-CHM13 | GRCh38 | k-mer | Remarks | Age |
|---|---|---|---|---|---|---|
| CHM13 | XX | 10.3 | 10.1 | 10.2 | CHM13hTERT cell line, karyotypically normal | na |
| HG002 | XY | 10.1 | 10.7 | 10.1 | GM24385 cell line, karyotypically normal | na |
| GM03417 | XX | 8.3 | 8.4 | 8.3 | Clinical features of Down syndrome. Mosaic; 32% of cells are balanced 45,XX, t(14;21); *Cellular heterogeneity with regard to the number of copies of Chr. 21, with 3 copies of Chr. 21 being relatively rare (~10%) |
15 |
| GM03786 | XX | 8.0 | 8.1 | 8.0 | Clinically normal | 19 |
| GM04890 | XX | 8.1 | 8.3 | 8.1 | Clinically normal; has had 5 miscarriages | 32 |