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Our collaborators:
hESC and iPS Cell Lines with Genetic Disorders
hESC Lines
| 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 | |
| approx. 40 CAG repeats | GENEA091 | |
| approx. 41 CAG repeats | GENEA089 | |
| approx. 45 CAG repeats | GENEA090 | |
| 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 | |
| Multiple Hereditary Exotoses | GENEA097 GENEA098 |
|
| 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 GENEA096 |
|
| 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 | Trisomy 13 | CSES16 UCLA 7 SA002 SA002.5 |
| 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 |
| Simpson Golabi Behmel Syndrome | GENEA088 | |
| 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 14 | NYUES11 | |
| Trisomy 16 | CSES22 GENEA003 |
|
| Trisomy 17 | ||
| 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 |
iPS Cell Lines
| Disorder | Mutation | Cell Lines |
| Amyotrophic Lateral Sclerosis | ALS, (L144F [Leu144 > Phe] dominant allele of the superoxide dismutase (SOD1) gene) |
A29a A29b A29c 29d 29e |
| G85S [Gly85 > Ser] dominant allele of the superoxide dismutase (SOD1) gene | 27b 27e |
|
| ALS-iPS1 ALS-iPS2 |
||
| Cockayne Syndrome | ERCC6 gene, 2282 C>T transition | CSB-iPSC cl1 CSB-iPSC cl2 CSB-iPSC cl3 |
| Crigler-Najjar Syndrome | UGT1A1, p.Leu413Pro | CNS1-hiPSC10 CNS2-hiPSC7 |
| Cystic Fibrosis | CF-RiPS-1.2 CF-RiPS-1.3 CF-RiPS-1.4 |
|
| homozygous DF508 mutant CFTR genotype | DF508 2 DF508 4 DF508 5 DF508 6 RC2 202 2 RC2 202 4 |
|
| Diabetes, Type 1 | DiPS-H1.5 DiPS-H2.1 DiPS-H2.4 |
|
| Down syndrome | Trisomy 21 | DS1-IPS4 DS2-IPS1 DS2-IPS10 |
| Emphysema | AAT deficiency, PiZZ phenotype | RC2 100 3 RC2 100 3 Cr-1 RC2 100 3 Cr-6 RC2 102 37 Cr-1 RC2 102 37 Cr-3 RC2 103 43 Cr-1 RC2 103 43 Cr-3 |
| Gaucher Disease type III | GD, (AAC > AGC, exon 9, G-insertion, nucleotide 84 of cDNA, GBA gene) |
GD-IPS1 GD-IPS3 |
| Glycogen Storage Disease, Type 1b | SLC37A, c.1124-2A>G | GSD-hiPSC7 |
| Huntington disease | HD, (72 CAG repeats, huntingtin gene) | HD-IPS1 HD-IPS4 HD-IPS11 |
| Hutchinson-Gilford Progeria | LMNA gene, 2036 C>T transition |
HGPS-iPSC#1 |
| LMNA gene, 1824 C>T transition | PG1-IPS-1 PG1-IPS-2 PG2-IPS-1 PG2-IPS-2 |
|
| Juvenile diabetes mellitus | multifactorial | JDM-IPS1 JDM-IPS2 JDM-IPS4 |
| Lesch-Nyhan syndrome, carrier | heterozygosity of HPRT1 | LNSC-IPS2 |
| Long QT Syndrome, Type 1 | LQT1 | |
| Mucopolysaccharidosis, Type 1 (Hurler Syndrome) | MPS-KC-iPS 1 MPS-KC-iPS 2 MPS-MSC-iPS 2 |
|
| Muscular Dystrophy, Becker | BMD, Unidentified mutation in dystrophin | BMD-IPS1 BMD-IPS4 |
| Muscular Dystrophy, Duchenne |
DMD-iPS (DYS-HAC)1 |
|
| DMD, (Deletion of exon 45-52, dystrophin gene) | DMD-IPS1 DMD-IPS2 |
|
| Myeloproliferative Disorder (Polycythemia Vera) | JAK2 gene, V617F mutation | iMPD183.C1 iMPD183.C2 iMPD183.C3 iMPD183.C5 iMPD183.C6 iMPD183.C7 iMPD183.C8 iMPD183.C10 iMPD183.C11 |
| Myeloproliferative Disorder (Primary Myelofibrosis) | JAK2 gene, V617F mutation | iMPD562.C.3 iMPD562.C2 |
| Parkinson disease | multifactorial | PD-IPS1 PD-IPS5 PD-IPS11 PD-IPS1 PD-IPS2 |
| Progressive familial hereditary cholestasis | multifactorial | HER1-hiPSC1 |
| Schizophrenia | DISC1 mutation | D1-iPSC-1 D2-iPSC-1 |
| Severe Combined Immunodeficiency |
ADA-SCID, Adenosine Deaminase Deficiency- related, (GGG>AGG, exon 7, ADA gene) |
ADA-IPS2 ADA-IPS3 |
| Spinal Muscular Atrophy | SMA-iPS1 SMA-iPS2 |
|
| Spinal Muscular Atrophy, Type 1 | IPS-SMA-3.5 IPS-SMA-3.6 |
|
| Spinal Muscular Atrophy, Type 1, carrier |
IPS-WT | |
| Spinocerebellar Ataxia, Type 7 (Olivopontocerebellar Atrophy) | SCA7 gene, 45 CAG repeats | OPCA-iPS1 OPCA-iPS2 OPCA-iPS3 |
| Shwachman-Bodian- Diamond syndrome |
SBDS, (IV2 + 2T>C and IV3 - 1G>A, SBDS gene) | SBDS-IPS1 SBDS-IPS2 SBDS-IPS3 |
| Tyrosinemia, Type 1 | FAH gene, GLN64His mutation | TYR1-hiPSC1 |
| X-linked Adrenoleukodystrophy, Adrenomyeloneuropathy (AMN) | AMN iPSC-3 | |
| X-linked Adrenoleukodystrophy, Childhood Cerebral ALD (CCALD) | CCALD iPSC-2 CCALD iPSC-10 |
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