Table 2.
SMN1 and SMN2 Copy Numbers as well as Core STR Profiles for Type II SMA Cell Lines
| copy number | marker alleles | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell line | Type | SMN1 | SMN2 | AMEL | CSF1PO | D7S820 | D13S317 | D16S539 | TH01 | D5S818 | TPOX | vWA |
| GM03813 | Fib | 0 | 3 | X,Y | 9,10 | 9,10 | 9,11 | 11,12 | 6,7 | 11,13 | 8,8 | 16,17 |
| GM22592 | Fib | 0 | 3 | X,Y | 8,10 | 9,10 | 8,14 | 12,13 | 9,9 | 11,14 | 8,11 | 16,16 |
| AIDHC-SP4 | Fib | 0 | 3 | X,X | 12,12 | 9,9 | 10,14 | 11,12 | 8,9 | 11,12 | 8,8 | 18,19 |
| AIDHC-SP5 | Fib | 0 | 3 | X,X | 11,12 | 11,12 | 11,12 | 9,11 | 6,9 | 11,11 | 8,11 | 17,19 |
| AIDHC-SP22 | Fib | 0 | 3 | X,Y | 11,13 | 11,12 | 8,12 | 11,12 | 6,9 | 10,11 | 8,9 | 16,18 |
| AIDHC-SP23 | Fib | 0 | 3 | X,Y | 11,12 | 10,11 | 11,14 | 9,11 | 9.3,10 | 12,13 | 8,8 | 19,20 |
| AIDHC-SP25 | Fib | 0 | 3 | X,Y | 11,12 | 8,10 | 8,10 | 9,11 | 6,6 | 10,11 | 8,8 | 16,18 |
| AIDHC-SP26 | Fib | 0 | 3 | X,Y | 10,11 | 8,8 | 11,12 | 12,13 | 9,9.3 | 12,13 | 8,8 | 16,18 |
| AIDHC-SP32 | Fib | 0 | 3 | X,Y | 11,12 | 10,12 | 12,12 | 11,15 | 9,9.3 | 12,12 | 8,10 | 15,17 |
| AIDHC-13303 (+DS) | Fib | 0 | 4 | X,Y | 10,12 | 11,11 | 8,12 | 9,12 | 7,9 | 12,13 | 8,8 | 15,16 |
| AIDHC-13010* | Fib | 0 | 3 | X,X | 10,11 | 10,11 | 9,12 | 11,13 | 9.3,9.3 | 11,12 | 8,11 | 18,18 |
| AIDHC-13148 | Fib | 0 | 3 | X,Y | 12,12 | 10,12 | 11,14 | 10,11 | 8,9.3 | 12,13 | 9,9 | 16,18 |
| AIDHC-13822 | Fib | 0 | 3 | X,Y | 11,12 | 11,12 | 12,13 | 11,12 | 6,6 | 11,12 | 11,11 | 17,18 |
| AIDHC-15224* | Fib | 0 | 3 | X,X | 10,11 | 10,11 | 9,12 | 11,13 | 9.3,9.3 | 11,12 | 8,11 | 18,18 |
| TC96-2824 | Fib | 0 | 3 | X,Y | 11,12 | 9,12 | 11,11 | 11,11 | 7,9 | 12,12 | 6,11 | 15,16 |
| TC96-2827 | Fib | 0 | 3 | X,Y | 10,12 | 10,11 | 8,11 | 11,12 | 9.3,9.3 | 9,11 | 8,8 | 16,18 |
| TC96-2831 | Fib | 0 | 3 | X,X | 12,12 | 11,12 | 8,11 | 13,14 | 6,9 | 7,11 | 8,9 | 18,18 |
| TC96-2832 | Fib | 0 | 3 | X,Y | 12,12 | 10,11 | 11,13 | 11,12 | 9,9 | 11,11 | 8,11 | 16,17 |
| TC96-2837 | Fib | 0 | 3 | X,Y | 10,10 | 11,13 | 12,14 | 10,11 | 7,9.3 | 12,13 | 8,11 | 16,18 |
| TC96-2860 | Fib | 0 | 2 | X,X | 9,10 | 8,11 | 12,12 | 9,12 | 8,9.3 | 12,12 | 11,12 | 15,18 |
| TC96-2865 | Fib | 0 | 3 | X,X | 11,12 | 9,10 | 12,12 | 13,14 | 8,9 | 11,13 | 8,9 | 16,16 |
| TC97-2922 | Fib | 0 | 3 | X,X | 10,10 | 8,12 | 11,11 | 11,12 | 6,9 | 12,12 | 11,12 | 18,19 |
| KS-0151 | Fib | 0 | 3 | X,Y | 10,11 | 9,10 | 11,11 | 9,10 | 7,9.3 | 11,12 | 8,8 | 16,16 |
| KS-0303 | Fib | 0 | 3 | X,X | 11,12 | 12,12 | 10,12 | 9,12 | 7,9.3 | 12,12 | 8,11 | 16,18 |
The SMN1 and SMN2 copy numbers for type II SMA fibroblast (Fib) cell lines were measured using array digital PCR. The alleles for the core STR profiles are listed for each cell line. AIDHC-13303 was derived from an individual with type II SMA and Down syndrome (DS). The asterisk (*) denotes those cell lines which were derived from the same type II SMA patient.