| Genetic Disorder | Mutation | Cell Lines |
| Adrenoleukodystrophy | ALD, X-linked | RG-201 |
| Albinism Ocular, Type1 | AOA1 | RG-279
RG-285 |
| Alpha-Thalassaemia | | GENEA073 |
| Alpha-Thalassemia X-linked Mental Retardation (ATRX) Syndrome | | NYUES6 |
| Alport Syndrome | | Lis13_Alport2
Lis14_Alport3 |
| Androgen Insensitivity | AR gene. Small deletion in intron 5 | Lis07_AIS1
Lis08_AIS2 |
| Aneuploidy | | RH5 |
| Beta-Thalassemia | HBB | RG-164
OZ-8
KCL035 |
| HBB, Beta globin locus (mutation IVS 110) | RG-277 |
| Beta-Thalassemia, carrier | HBB, Beta globin locus (mutation IVS 110) | RG-158
RG-213 |
| | KCL030 |
| Breast Cancer | BRCA1 | GENEA059
NYUES7 |
Breast Cancer and
Endocrine Neoplasia | Breast Cancer, Familial, (BRCA2), affected
(N/IVS7 GT del) & Multiple Endocrine
Neoplasia, Type1 (MEN1), affected | RG-413 |
| Charcot-Marie Tooth Disease, Type 1A | | VUB20_CMT1A
GENEA062
GENEA063 |
| Charcot-Marie Tooth Disease, Type 1B | | GENEA064 |
| Cystic Fibrosis | | RG-257
VUB22_CF
GENEA040
GENEA041
STR-203-CFTR
STR-251-CFTR |
| CFTR, deltaF508 | KCL021 |
heterozygous compound for F508del/ 3849 C >T
and F508del/E585X | ERAMUC1
ERAMUC2 |
| CFTR, (405+1G>A mutation in CFTR gene) | HAD2 |
| CFTR, (delta F508/1717-1 G>A) | RG-416
RG-417 |
| CFTR, (deltaF508/deltaF508) | RG-288
RG-289
RG-411
RG-412 |
| CFTR, (N1303K/ deltaF508) | RG-410
RG-422 |
| CFTR, (F508del and 5T variant) | VUB04_CF |
| Cystic Fibrosis, carrier | CFTR, Heterozygous (F508 deletion) | KCL003 (CF-1)
RG-423 |
| Down Syndrome | Trisomy 21 | CSES13
CSES20
CSES21
GENEA021
GENEA053 |
| Epidermolysis Bullosa | | GENEA082 |
| Fabry Syndrome | | STR-171-GLA |
| Fanconi Anemia-A, carrier | 14 bp deletion | RG-128 |
Fragile Site Mental
Retardation 1, carrier | FMR1, full mutation carrier (N/expansion) | RG-TL |
| Fragile X Syndrome | | VUB11_FXS
VUB13_FXS
RG-214
HEFX
STR-233-FRAXA |
| 200-1000 CGG | Lis01_HEFX |
| Fragile X Syndrome, carrier | 280-300 CGG | Lis02_FXS2 |
| 250 CGG | Lis03_FXS4 |
| | STR-189-FRAXA |
| >300 (CGG)n repeats in FMR1 gene | HAD5 |
| > 500 repeats | RG-125 |
| Gaucher Disease | GBA1 gene, N370S | Lis06_Gaucher1 |
| Hemoglobin Alpha Locus | HBA, (-alpha /--) | RG-356 |
| Hemoglobin Beta Locus mutation | HBB, (cd8+G /619del) | RG-418
RG-420 |
| HBB, (IVS1-5/Cd8+G) | RG-405 |
| Hemophilia-A | | HAD3 |
| Huntington Disease | HD, (44 CAG repeats) | VUB05_HD |
| HD | KCL005 (HD-1)
KCL008 (HD-2)
RG-186
RG-187
RG-194
RG-218
RG-396
RG-397
RG-415
STR-155-HD |
| 12/40 CAG repeats | GENEA017-HD |
| 17/42 CAG repeats | KCL012
KCL013
KCL036 |
| 17/43 CAG repeats | KCL027
KCL028 |
| 46 CAG repeats | GENEA018-HD |
| 17/48 CAG repeats | GENEA020-HD |
| 23/45 repeats | GENEA046-HD |
| Huntington Disease and Marfan Syndrome | | VUB28_HD_MFS |
| Hypochondroplasia | | GENEA077 |
| Incontinentia Pigmenti | | GENEA071 |
| Infantile Neuroaxonal Dystrophy | | GENEA065 |
| Isochromosome 13 | mosaic line | GENEA009 |
| Juvenile Retinoschisis | | GENEA072 |
| Klinefelter Syndrome | XXY | WA16 |
| Loeys-Dietz Syndrome 2 | | GENEA083
GENEA084 |
| Marfan Syndrome | | MFS5
VUB08_MFS
RG-154 |
| Merosin-Deficient Congenital Muscular Dystrophy, Type 1A | | GENEA081 |
| Multiple Endocrine Neoplasia, Type1 | MEN1, (N/3036 4bp del) | RG-414 |
| Multiple Endocrine Neoplasia, Type2 | | STR-209-MEN2a
STR-211-MEN2a |
| MEN2B, (M918T/N) | RG-424 |
| Muscular Dystrophy, Becker | BMD | GENEA058 |
| Muscular Dystrophy, Becker, carrier | BMD | RG-170 |
| Muscular Dystrophy, Duchenne | DMD | RG-180
RG-283
RG-301 |
| DMD, deletion exons 44-47 | Lis10_DMD1
Lis11_DMD2 |
Muscular Dystrophy, Duchenne,
carrier | DMD | RG-302 |
| Muscular Dystrophy, Emery-Dreifuss | | RG-246 |
| Muscular Dystrophy, Emery-Dreifuss, carrier | EDMD,X-linked, XXY | RG-245
RG-357
RG-358 |
| Muscular Dystrophy, Facioscapulohumeral | | VUB09_FSHD
RG-328
RG-329
RG-330
RG-333
RG-399
RG-401
RG-402
RG-403 |
| Muscular Dystrophy, Facioscapulohumeral, putative | | GENEA049
GENEA050 |
Muscular Dystrophy,
Facioscapulohumeral and Turner Syndrome | Turner: 45,X | GENEA024 |
| Myotonic Dystrophy | | VUB19_DM1
VUB24_DM1
RG-148
RG-153 |
| >2 kb CTG | Lis12_DM1 |
| DM1, (expansion of 470 CTG repeats) | VUB03_DM1 |
| Myotonic Dystrophy, Type 1 | | VAL-6M
GENEA067 |
DM1, (expansion of >150 CTG repeats
in DMPK gene) | HAD1 |
| DMPK gene, ~2,200 CTG repeats | KCL018 |
| Myotonic Dystrophy, Type 2 | | GENEA066 |
| Nemaline Myopathy 2 | | GENEA078
GENEA079
GENEA080 |
| NEMO Deficiency | T458G mutation in exon 4 of IKBKG gene | CHB-13
CHB-14 |
| Neurofibromatosis, Type I | NF1 | RG-137
RG-138
RG-139
RG-140
RG-141
RG-235 |
| NF1, c.3739-3742 ?TTTG | KCL024
KCL025 |
| NF1, (R19 47X/N) | RG-315 |
| Osteogenesis Imperfecta, Type 1 | | VUB23_OI |
| Patau Syndrome | | CSES16 |
| Pelizaeus-Merzbacher Disease | PMLD | RG-426 |
| Popliteal Pterygium Syndrome | PPS, (R84H/N) | RG-326 |
| Retinitis Pigmentosa | | GENEA085 |
| Saethre-Chotzen Syndrome | Twist1 gene, Ala129Pro mutation | Lis04_Twist1 |
| Sandhoff Disease | HEXB, (N/I120V/5'end 16Kb del) | RG-395 |
| Sickle Cell Anemia | Hemoglobin-Beta Locus (HBB) | RG-233
RG-254 |
| Spinal Muscular Atrophy, Type I | SMA1 | RG-274
RG-404 |
| exons 7 and 8 of the SMN1 gene deleted | KCL026 |
| Spinocerebellar Ataxia, Type 2 | | STR-221-SCA2 |
| Spinocerebellar Ataxia, Type 7 | SCA7 | VUB10_SCA7 |
| Torsion Dystonia | | GENEA074 |
| Torsion Dystonia 1 | DYT1, Autosomal Dominant (N/GAG del) | Lis09_DYS1
RG-271
RG-406
RG-386 |
| Treacher Collins-Francescetti Syndrome | TCOF, (Nt. 4374 ins. A/N) | RG-407
RG-408 |
| Translocation: 7;12 | | KCL009-trans1 |
| Translocation: 7;17 | | CSES14 |
| Translocation, 11;22 | unbalanced | Lis05_t(11,22) |
| Triple X Syndrome | XXX | CSES23 |
| Triploidy | 69, XXY | FY-hES-33 |
| Trisomy 3 | | Miz-hES13 |
| Trisomy 5 | | GENEA011 |
| Trisomy 13 | | SA002
SA002.5 |
| Trisomy 14 | | NYUES11 |
| Trisomy 16 | | CSES22
GENEA003 |
| Trisomy 17 | | CSES8
NYUES12 |
| Trisomy 69XXY | | FC018 |
| Trisomy 18, 21, 22, X | | NYUES3 |
| Tuberous Sclerosis, Type 1 | TSC1, (N/IVS7+1 G-A) | RG-316
RG-320
RG-428 |
| Tuberous Sclerosis, Type 2 | | GENEA086
GENEA087 |
| Turner Syndrome | Mosaic cell line, X0 | CSES24 |
| Vitelliform Macular Dystrophy | | GENEA069
GENEA070 |
| Von Hippel-Lindau Disease | | GENEA060
GENEA061
KCL015 |
| affecting splicing site 676+3A>T | KCL016
KCL017 |
| Wilm's Tumor | | GENEA068 |
| Wiskott-Aldrich Syndrome | (c.814T>C) also a carrier for Cystic Fibrosis (p.N1152H) | KCL029 |
| X-Linked Myotubular Myopathy | | STR-229-MTMX
STR-231-MTMX |
| X-Linked Disease | | KCL001 (WT-3) |
| Zellweger Syndrome | | NYUES8 |