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. 2024 Sep 14;108:105328. doi: 10.1016/j.ebiom.2024.105328

Table 1.

Summary of subjects and gDNA samples analysed by optical genome mapping.

Subject Sex/ancestry# FECD diagnosis Age of 1st keratoplasty STR genotype TP-PCR Subject sampling age Sample type OGM Mean allele length (bp) OGM Max allele length (bp) Number of CTG18.1 molecules
Immortalised corneal endothelial cell (CEC) line
F35T F/EUR ✓ 21/ + 62 3832 25,159 250
FECD subjects biopsied for both peripheral blood leukocytes (BL) and primary CEC-derived gDNA samples
1 a
b		 M/EUR ✓ 61 16/63
16/		 +
+		 62
62		 BL-1
CEC-1		 196
2771		 1849
1,7798		 438
254
2 a
b		 F/EUR ✓ 59 17/63
17/		 +
+		 59
59		 BL-2
CEC-2		 162
2752		 1162
19,758		 328
251
3 a
b		 F/EUR ✓ 75 31/75
31/		 +
+		 76
77		 BL-3
CEC-3		 200
2946		 1345
27,124		 372
245
4 a
b		 M/EUR ✓ 64 11/77
11/		 +
+		 64
64		 BL-4
CEC-4		 216
2192		 1033
13,247		 365
358
5 a
b		 M/EUR ✓ 83 27/81
27/		 +
+		 83
83		 BL-5
CEC-5		 371
2827		 2129
32,265		 472
246
6 a
b		 F/EUR ✓ 69 26/85
26/		 +
+		 69
69		 BL-6
CEC-6		 282
3625		 1484
35,561		 396
266
7 a
b		 F/EUR ✓ 59 11/90
11/		 +
+		 53
59		 BL-7
CEC-7		 303
1977		 1920
15,824		 400
279
8 a
b		 F/EUR ✓ 65 11/90
11/		 +
+		 65
66		 BL-8
CEC-8		 481
2101		 5437
19,513		 373
247
9 a
b		 M/EUR ✓ 58 25/96
25		 +
+		 58
58		 BL-9
CEC-9		 408
2698		 4670
19,924		 308
286
CTG18.1 expansion-positive peripheral blood leukocytes (BL)-derived gDNA samples
 10 M/EUR ✓ 70 64/82 + 72 BL-10 383 1890 432
 11 M/EUR ✓ 77 11/85 + 69 BL-11 291 3113 358
 12 M/EUR ✓ 54 11/94 + 54 BL-12 334 1302 376
 13 F/EUR ✓ 65 68/95 + 73 BL-13 590 7055 360
 14 M/EUR ✓ 74 11/101 + 74 BL-14 1039 8412 297
 15 M/EUR ✓ 67 17/107 + 67 BL-15 996 9179 336
CTG18.1 expansion-negative peripheral blood leukocyte (BL-Ctr)-derived gDNA samples
 16 F/EUR ✗ N/A 11/11 – 57 BL-Ctr1 172 1385 509
 17 F/EUR ✗ N/A 11/16 – 29 BL-Ctr2 117 1140 396
 18 F/EUR ✗ N/A 11/16 – 50 BL-Ctr3 110 1265 391
 19 M/AFR ✓ 92 14/21 – 92 BL-Ctr4 109 1258 415
 20 M/SAS ✗ N/A 11/22 – 22 BL-Ctr5 134 1326 309
 21 M/SAS ✗ N/A 17/22 – 40 BL-Ctr6 135 994 363
 22 M/EUR ✗ N/A 17/23 – 67 BL-Ctr7 167 1174 396
 23 M/EAS ✗ N/A 23/24 – 48 BL-Ctr8 184 1386 414
 24 F/EUR ✗ N/A 17/32 – 69 BL-Ctr9 142 1450 407
CTG18.1 expansion-negative corneal endothelial cell (CEC)-derived gDNA samples
 25 F/EUR ✓ 60 11/14 – 60 CEC-Ctr1 111 1340 470
 26 F/EUR ✗ N/A 11/17 – 54 CEC-Ctr2 51 1281 369
 27 M/EUR ✗ N/A 15/17 – 70 CEC-Ctr3 164 1751 399
 28 F/EUR ✗ N/A 25/27 – 50 CEC-Ctr4 110 904 198
 29 M/EUR ✗ N/A 11/32 – 74 CEC-Ctr5 97 979 351
 30 M/EUR ✗ N/A 11/39 – 58 CEC-Ctr6 182 1087 415
CTG18.1 bi-allelic corneal endothelial cell (CEC)-derived gDNA sample
 31 F/EUR ✓ 77 57/93a + 77 CEC-10 16,803 30,232 87

Karyotypic sex, diagnosis, age of first corneal transplant surgery (as an indicator for disease severity), self-reported ancestry (#) and sampling age summarised for all subjects and samples of the study. STR: short-tandem repeat genotyping, M: male, F: female, EUR: European, AFR: African, SAS: South Asian, EAS: East Asian, BL: peripheral blood leukocyte sample, CEC: corneal endothelial cell sample, N/A: not applicable information. TP-PCR + and–indicates the presence or absence of an expanded allele. Subject sampling age shown for both blood collection and excised corneal endothelial tissue.

a

Genotyping data derived from subject's leukocyte-derived gDNA sample.