Table 4.
SMN1 and SMN2 Copy Numbers as well as Core STR Profiles for Control Cell Lines Commonly Used in SMA Research
| copy number | marker alleles | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell line | Type | SMN1 | SMN2 | AMEL | CSF1PO | D7S820 | D13S317 | D16S539 | TH01 | D5S818 | TPOX | vWA |
| GM00409 | Fib | 3 | 1 | X,Y | 10,13 | 8,10 | 11,11 | 11,13 | 8,9 | 11,11 | 11,11 | 15,17 |
| GM00498 | Fib | 2 | 2 | X,Y | 10,11 | 8,8 | 11,12 | 8,12 | 9.3,9.3 | 11,12 | 8,11 | 19,19 |
| GM02036 | Fib | 2 | 1 | X,X | 12,13 | 8,11 | 8,12 | 9,12 | 6,6 | 12,13 | 9,11 | 17,19 |
| GM03814 | Fib | 1 | 5 | X,X | 9,10 | 10,10 | 11,12 | 11,11 | 6,7 | 12,13 | 8,11 | 14,16 |
| GM03815 | Fib | 1 | 1 | X,Y | 10,12 | 9,10 | 9,11 | 11,12 | 6,9.3 | 11,12 | 8,12 | 14,17 |
| GM23687 | LCL | 1 | 2 | X,X | 10,11 | 10,12 | 9,14 | 11,11 | 7,9 | 11,12 | 8,8 | 17,19 |
| GM23688 | LCL | 1 | 2 | X,Y | 10,12 | 10,11 | 10,11 | 9,12 | 6,9 | 7,11 | 8,11 | 15,16 |
| AIDHC-SC1 | Fib | 2 | 2 | X,Y | 11,12 | 11,12 | 11,12 | 12,12 | 7,8 | 11,12 | 11,11 | 14,15 |
| AIDHC-SC2 | Fib | 2 | 2 | X,Y | 9,10 | 8,11 | 11,11 | 9,12 | 6,9 | 10,11 | 10,10 | 15,16 |
| AIDHC-NMC1 | Fib | 2 | 2 | X,Y | 10,12 | 10,11 | 11,12 | 11,12 | 6,9 | 12,12 | 8,11 | 16,17 |
| AIDHC-NMC2 | Fib | 1 | 3 | X,Y | 10,10 | 12,12 | 10,11 | 10,12 | 6,7 | 11,11 | 8,8 | 14,18 |
| AIDHC-NMC3 | Fib | 2 | 1 | X,Y | 9,11 | 9,11 | 9,11 | 10,11 | 6,7 | 12,13 | 8,10 | 14,18 |
| AIDHC-NMC5 | Fib | 2 | 3 | X,Y | 11,12 | 9,11 | 8,13 | 11,13 | 8,8 | 11,11 | 11,11 | 12,18 |
| AIDHC-NMC7 | Fib | 2 | 0 | X,Y | 11,12 | 10,10 | 11,11 | 8,13 | 6,8 | 11,11 | 11,12 | 14,15 |
| AIDHC-NMC8 | Fib | 3 | 2 | X,Y | 11,11 | 10,11 | 11,12 | 11,12 | 9.3,9.3 | 11,11 | 8,9 | 18,19 |
| AIDHC-NFC1 | Fib | 2 | 2 | X,X | 10,11 | 10,11 | 10,11 | 9,9 | 9.3,9.3 | 12,13 | 8,8 | 17,17 |
| AIDHC-NFC2 | Fib | 2 | 2 | X,X | 11,11 | 9,10 | 11,11 | 12,13 | 9.3,10 | 11,14 | 8,8 | 16,17 |
| AIDHC-NFC3 | Fib | 2 | 2 | X,X | 11,13 | 10,13 | 11,11 | 11,12 | 6,9.3 | 12,12 | 8,9 | 18,18 |
| AIDHC-NFC4 | Fib | 2 | 2 | X,X | 12,12 | 11,13 | 9,15 | 8,9 | 6,6 | 11,13 | 11,11 | 15,17 |
| AIDHC-NFC5 | Fib | 2 | 2 | X,X | 11,11 | 9,11 | 12,13 | 11,12 | 6,9.3 | 11,12 | 8,8 | 14,17 |
| AIDHC-NFC6 | Fib | 2 | 2 | X,X | 11,12 | 11,12 | 12,13 | 9,13 | 9,9.3 | 11,12 | 8,8 | 16,18 |
| AIDHC-NFC7 | Fib | 2 | 2 | X,X | 12,12 | 10,12 | 12,14 | 11,12 | 9.3,9.3 | 11,13 | 8,11 | 15,17 |
| AIDHC-NFC8 | Fib | 2 | 3 | X,X | 11,13 | 7,9 | 10,13 | 11,13 | 6,9.3 | 9,9 | 11,11 | 18,19 |
| AIDHC-14338 | Fib | 2 | 2 | X,Y | 10,11 | 8,12 | 9,11 | 9,11 | 7,9 | 11,11 | 8,11 | 17,19 |
| AIDHC-14697 | Fib | 2 | 1 | X,X | 10,10 | 12,12 | 9,11 | 12,12 | 7,9.3 | 11,13 | 9,11 | 15,15 |
| AIDHC-14531 | Fib | 6 | 2 | X,X | 7,11 | 10,11 | 8,12 | 9,12 | 7,9 | 10,12 | 9,9 | 16,16 |
The SMN1 and SMN2 copy numbers for healthy control fibroblast (Fib) and lymphoblastoid cell lines (LCLs) were measured using array digital PCR. The alleles for the core STR profiles are listed for each cell line.