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. 2018 Nov 12;27(3):389–399. doi: 10.1038/s41431-018-0294-0

Table 2.

Results nuclear morphology analysis of control- and published laminopathy fibroblasts

ID LMNA varianta Other varianta % abnorm. nuclei # total nuclei # norm. nuclei # abnorm. nuclei type of abnormalityb
B HC D B+HC B+D
1 p.(Lys32del) 10.67 300 268 32 19 4 8 1 0
2 p.(Tyr259*) 53.00 300 141 159 6 145 1 7 0
3 p.(Arg331Gln) 22.00 500 390 110 31 68 10 0 1
4 p.(Arg439Cys) 24.50 200 151 49 31 10 6 1 1
5 p.(Arg482Trp) 24.50 200 151 49 43 0 4 1 1
6 p.(Thr528Met) 13.50 800 692 108 29 50 18 11 0
7 p.(Thr528Met) + p.(Met540Thr) 39.80 1000 602 398 46 202 10 140 0
8 p.(Glu537Val_fs*14) 30.00 200 140 60 11 13 26 7 3
9 p.(Gly607_656del) 14.12 500 438 62 38 10 11 2 1
10 None 3.33 300 290 10 4 4 1 1 0
11 None 4.33 300 287 13 11 0 2 0 0
12 None 4.67 300 286 14 11 0 3 0 0
13 None SCN5A p.(Phe1617del) 6.00 300 282 18 8 3 3 4 0
14 None SCN5A p.(Phe1617del) 5.67 300 283 17 3 7 6 1 0
15 None 5.33 300 284 16 11 0 5 0 0
16 None MYH7 p.(Ala161Pro) 5.33 300 284 16 9 1 6 0 0
17 None 3.33 300 290 10 5 1 4 0 0

aProtein change identified variant according to LMNA NG_008692.2 NM_170707.3; SCN5A NG_008934.1 NM_198056.2; MYH7 NG_007884.1 NM_00257.3)

bType of abnormality: B, Blebs/herniations; HC, honeycomb-like structure; D, donut-like structures, or combinations of aforementioned