Table 3.
SMN1 and SMN2 Copy Numbers as well as Core STR Profiles for Type III SMA Cell Lines
| copy number | marker alleles | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell line | Type | SMN1 | SMN2 | AMEL | CSF1PO | D7S820 | D13S317 | D16S539 | TH01 | D5S818 | TPOX | vWA |
| GM23255 | LCL | 0 | 3 | X,Y | 9,12 | 11,12 | 8,11 | 9,11 | 6,9 | 10,13 | 8,11 | 14,14 |
| AIDHC-SP24 | Fib | 0 | 4 | X,Y | 11,11 | 8,12 | 9,11 | 9,12 | 6,8 | 11,12 | 8,8 | 15,17 |
| AIDHC-SP27 | Fib | 0 | 4 | X,Y | 11,12 | 8,12 | 6,12 | 11,12 | 7,9 | 11,12 | 10,11 | 16,20 |
| AIDHC-SP31 | Fib | 1* | 1 | X,Y | 8,11 | 10,11 | 11,11 | 11,11 | 7,8 | 12,12 | 8,8 | 15,18 |
| AIDHC-00138 | Fib | 0 | 4 | X,Y | 9,12 | 9,10 | 6,12 | 9,11 | 6,9 | 11,12 | 8,11 | 16,19 |
| AIDHC-13219 | Fib | 0 | 4 | X,X | 11,11 | 8,12 | 8,9 | 9,11 | 6,8 | 11,11 | 8,8 | 15,17 |
| TC96-2873 | Fib | 0 | 3 | X,X | 11,12 | 8,9 | 11,14 | 10,11 | 6,6 | 11,12 | 11,11 | 17,18 |
| TC96-2906 | Fib | 0 | 4 | X,Y | 10,12 | 9,10 | 10,12 | 11,13 | 7,9.3 | 11,12 | 10,12 | 16,17 |
| KS-0064 | Fib | 0 | 4 | X,Y | 11,11 | 8,11 | 10,12 | 11,12 | 6,7 | 11,12 | 8,9 | 17,17 |
| KS-0123 | Fib | 0 | 4 | X,Y | 11,11 | 8,11 | 10,13 | 11,13 | 6,9.3 | 12,12 | 8,8 | 17,17 |
| KS-0330 | Fib | 0 | 3 | X,Y | 11,11 | 11,12 | 11,12 | 12,12 | 6,9.3 | 11,12 | 11,11 | 18,18 |
The SMN1 and SMN2 copy numbers for type III SMA 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.
*
AIDHC-SP31 contains an intragenic missense mutation on SMN1 (c.38C>G; SMN1p.A2G).