Table 1.
Summary of the genotypic and phenotypic features of the human lymphoblastoid cell lines
| Lymphoblasts | DNA change* | Exons | Coding change | % Repair Mean (SD) | Protein level† Mean (SD) | IC50 Mean (SD) | |
|---|---|---|---|---|---|---|---|
| hMSH2+/− | |||||||
| hMSH2 | |||||||
| FIN 25-2 | 2 bp ins | 12 | Frameshift | 76 (2) | 48 (6) | 85 (19) | |
| MLC 332 | 1981–2073 del | 12 | Frameshift | 68 (2) | 23 (1) | 186 (3) | |
| MLC 586 | Exon 7 del | 7 | Frameshift | 68 (7) | 39 (1) | 86 (18) | |
| MLC 177 | Exons 8–15 del | 8 to 15 | Frameshift | 67 (5) | 63 (1) | 33 (5) | |
| MLC 21 | Splice donor | 15 | Frameshift | 66 (4) | 37 (9) | 164 (32) | |
| MLC 216 | Splice donor | 5 | In-frame del | 65 (2) | 27 (11) | 66 (9) | |
| Sw 1587 | 1,148 C>T | 7 | Nonsense | 64 (5) | 56 (11) | 91 (9) | |
| FIN 106 | Splice acceptor | 9 | Frameshift | 62 (4) | 52 (1) | 108 (4) | |
| Sw 1383 | 3 bp del | 12 | Asn596 del | 58 (3) | 43 (6) | 151 (24) | |
| MLC 101 | Splice donor | 5 | In-frame del | 57 (10) | 27 (6) | 243 (36) | |
| MLC 442 | 173 bp ins | 7 | Frameshift | 55 (11) | 50 (2) | 207 (30) | |
| FIN 93 | 2 bp del | 10 | Frameshift | 52 (2) | 55 (11) | 170 (33) | |
| Mean | 63 | 43 | 132 | ||||
| hMLH1+/− | |||||||
| hMLH1 | |||||||
| FIN 40 | Splice acceptor | 14 | Frameshift | 78 (0) | 103 (0) | 16 (2) | |
| FIN 28 | 320 T>G | 4 | Missense (Ile107Arg) | 76 (1) | 68 (6) | 11 (4) | |
| FIN 8 | Splice donor | 12 | Frameshift | 75 (6) | 88 (11) | 67 (9) | |
| FIN 10 | 3.5 kb genomic del | 16 | In-frame del | 74 (3) | 97 (1) | 62 (6) | |
| FIN 7 | 1976 G>C | 17 | Missense (Arg659Pro) | 73 (3) | 103 (9) | 79 (4) | |
| 22 SD | 676 C>T | 8 | Nonsense | 71 (7) | 97 (14) | 16 (2) | |
| FIN 83 | 1975 C>T | 17 | Nonsense | 69 (3) | 117 (29) | 94 (1) | |
| Sw 1121 | Splice acceptor | 19 | Last exon del | 69 (1) | 84 (0) | 10 (3) | |
| 210 MI | Splice acceptor | 8 | Frameshift | 66 (6) | 86 (3) | 18 (3) | |
| FIN 26 | Splice acceptor | 6 | Frameshift | 65 (13) | 79 (11) | 40 (2) | |
| Sw 434 | 351 C>G | 4 | Missense (Thr117Arg) | 62 (14) | 76 (1) | 19 (5) | |
| Sw 1033 | 1 bp del | 16 | Frameshift | 57 (3) | 44 (3) | 52 (11) | |
| Mean | 70 | 87 | 40 | ||||
| Normals | |||||||
| FIN Co3 | 80 (7) | 12 (4) | |||||
| 413 MI | 77 (6) | 6 (2) | |||||
| 416 MI | 74 (0) | 9 (4) | |||||
| FIN Co2 | 74 (11) | 50 (8) | |||||
| 407 MI | 71 (8) | 45 (15) | |||||
| FIN Co1 | 71 (9) | 24 (5) | |||||
| 411 MI | 55 (5) | 92 (7) | |||||
| Mean | 72 | 34 |