Table 1.
Main characteristics of Fanconi anemia patients enrolled in the FANCOSTEM-I clinical trial
| Code | Sex | Ethnicity | Age (years) | Weight (kg) | % PB T cells with Chr breaks (DEB) | Compl. group | BM CFC survival (10 nM MMC) | Mutation 1 (FANCA) | Mutation 2 (FANCA) |
|---|---|---|---|---|---|---|---|---|---|
| 01001 | male | European/white | 15 | 65.0 | 84 | FA-A | 11.8 | Del exons 19–22 | c.3348+A>G (intronic region exon 33) |
| 01002 | male | Roma/gypsy | 16 | 42.0 | 84 | FA-A | ND | c.295C>T (exon 4) | c.295C>T (exon 4) |
| 01003 | male | Roma/gypsy | 3 | 10.0 | 64 | FA-A | 0.0 | c.295C>T (exon 4) | c.295C>T (exon 4) |
| 01005 | male | Roma/gypsy | 5 | 16.0 | 80 | FA-A | 0.0 | c.295C>T (exon 4) | c.295C>T (exon 4) |
| 02002 | male | Roma/gypsy | 3 | 17.0 | 80 | FA-A | 0.0 | c.295C>T (exon 4) | c.295C>T (exon 4) |
| 02003 | male | European/white | 3 | 9.0 | 66 | FA-A | 0.0 | c.1858_1859insC (exon 21) | c.893+2T>C (intron 10) |
| 02004 | male | European/white | 6 | 14.0 | 66 | FA-A | 3.9 | c.1115_1118delTTGG (exon 13) | c.1115_1118delTTGG (exon 13) |
| 02005 | male | Roma/gypsy | 4 | 17.0 | 74 | FA-A | 0.0 | c.295C>T | c.295C>T |
| 02006 | male | European/white | 5 | 13.9 | 64 | FA-A | 0.0 | c.3788_3790delTCT (exon 38) | c.2851C>G (exon 29) |
| 02007 | female | European/white | 7 | 18.0 | 72 | FA-A | 0.0 | c.4130C>G exon 41 | c.1115_1118delTTGG (exon 13) |
| 02008 | male | Middle Eastern | 4 | 12.7 | 100 | FA-A | 0.0 | c.3788_3790delTCT | arr[hg19]16q24.3(89,804,013-89,896,981)x1 |