hESC and iPS Cell Lines with Genetic Disorders

hESC Lines

Genetic DisorderMutationCell Lines
AdrenoleukodystrophyALD, X-linkedRG-201
Albinism Ocular, Type1AOA1RG-279
RG-285
Alpha-Thalassaemia GENEA073
Alpha-Thalassemia X-linked Mental Retardation (ATRX) Syndrome NYUES6
Alport Syndrome Lis13_Alport2
Lis14_Alport3
Androgen InsensitivityAR gene. Small deletion in intron 5Lis07_AIS1
Lis08_AIS2
Aneuploidy RH5
Beta-ThalassemiaHBBRG-164
OZ-8
KCL035
HBB, Beta globin locus (mutation IVS 110)RG-277
Beta-Thalassemia, carrierHBB, Beta globin locus (mutation IVS 110)RG-158
RG-213
 KCL030
Breast CancerBRCA1GENEA059
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, deltaF508KCL021
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, carrierCFTR, Heterozygous (F508 deletion)KCL003 (CF-1)
RG-423
Down SyndromeTrisomy 21CSES13
CSES20

CSES21
GENEA021
GENEA053
Epidermolysis Bullosa GENEA082
Fabry Syndrome STR-171-GLA
Fanconi Anemia-A, carrier14 bp deletionRG-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 CGGLis01_HEFX
Fragile X Syndrome, carrier280-300 CGGLis02_FXS2
250 CGGLis03_FXS4
 STR-189-FRAXA
>300 (CGG)n repeats in FMR1 geneHAD5
> 500 repeatsRG-125
Gaucher DiseaseGBA1 gene, N370SLis06_Gaucher1
Hemoglobin Alpha LocusHBA, (-alpha /--)RG-356
Hemoglobin Beta Locus mutationHBB, (cd8+G /619del)RG-418
RG-420
HBB, (IVS1-5/Cd8+G)RG-405
Hemophilia-A HAD3
Huntington DiseaseHD, (44 CAG repeats)VUB05_HD
HDKCL005 (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 repeatsGENEA017-HD
17/42 CAG repeatsKCL012
KCL013
KCL036
17/43 CAG repeatsKCL027
KCL028
46 CAG repeatsGENEA018-HD
17/48 CAG repeatsGENEA020-HD
23/45 repeatsGENEA046-HD
approx. 40 CAG repeatsGENEA091
approx. 41 CAG repeatsGENEA089
approx. 45 CAG repeatsGENEA090
Huntington Disease and Marfan Syndrome VUB28_HD_MFS
Hypochondroplasia GENEA077
Incontinentia Pigmenti GENEA071
Infantile Neuroaxonal Dystrophy GENEA065
Isochromosome 13mosaic lineGENEA009
Juvenile Retinoschisis GENEA072
Klinefelter SyndromeXXYWA16
Loeys-Dietz Syndrome 2 GENEA083
GENEA084
Marfan Syndrome MFS5
VUB08_MFS
RG-154
Merosin-Deficient Congenital Muscular Dystrophy, Type 1A GENEA081
Multiple Endocrine Neoplasia, Type1MEN1, (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, BeckerBMDGENEA058
Muscular Dystrophy, Becker, carrierBMDRG-170
Muscular Dystrophy, DuchenneDMDRG-180
RG-283
RG-301
DMD, deletion exons 44-47Lis10_DMD1
Lis11_DMD2
Muscular Dystrophy, Duchenne,
carrier
DMDRG-302
Muscular Dystrophy, Emery-Dreifuss RG-246
Muscular Dystrophy, Emery-Dreifuss, carrierEDMD,X-linked, XXYRG-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,XGENEA024
Myotonic Dystrophy VUB19_DM1
VUB24_DM1
RG-148
RG-153
>2 kb CTGLis12_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 repeatsKCL018
Myotonic Dystrophy, Type 2 GENEA066
Nemaline Myopathy 2 GENEA078
GENEA079
GENEA080
NEMO DeficiencyT458G mutation in exon 4 of IKBKG geneCHB-13
CHB-14
Neurofibromatosis, Type INF1RG-137
RG-138
RG-139
RG-140
RG-141
RG-235
NF1, c.3739-3742 ?TTTGKCL024
KCL025
NF1, (R19 47X/N)RG-315
Osteogenesis Imperfecta, Type 1 VUB23_OI
Patau SyndromeTrisomy 13CSES16
UCLA 7
SA002
SA002.5
Pelizaeus-Merzbacher DiseasePMLDRG-426
Popliteal Pterygium SyndromePPS, (R84H/N)RG-326
Retinitis Pigmentosa GENEA085
Saethre-Chotzen Syndrome Twist1 gene, Ala129Pro mutationLis04_Twist1
Sandhoff DiseaseHEXB, (N/I120V/5'end 16Kb del)RG-395
Sickle Cell AnemiaHemoglobin-Beta Locus (HBB)RG-233
RG-254
Simpson Golabi Behmel Syndrome GENEA088
Spinal Muscular Atrophy, Type ISMA1RG-274
RG-404
exons 7 and 8 of the SMN1 gene deletedKCL026
Spinocerebellar Ataxia, Type 2 STR-221-SCA2
Spinocerebellar Ataxia, Type 7SCA7VUB10_SCA7
Torsion Dystonia GENEA074
Torsion Dystonia 1DYT1, Autosomal Dominant (N/GAG del)Lis09_DYS1
RG-271
RG-406
RG-386
Treacher Collins-Francescetti SyndromeTCOF, (Nt. 4374 ins. A/N)RG-407
RG-408
Translocation: 7;12 KCL009-trans1
Translocation: 7;17 CSES14
Translocation, 11;22unbalancedLis05_t(11,22)
Triple X SyndromeXXXCSES23
Triploidy69, XXYFY-hES-33
Trisomy 3 Miz-hES13
Trisomy 5 GENEA011
Trisomy 14 NYUES11
Trisomy 16 CSES22
GENEA003
Trisomy 17 

CSES8
NYUES12

Trisomy 69XXY FC018
Trisomy 18, 21, 22, X NYUES3
Tuberous Sclerosis, Type 1TSC1, (N/IVS7+1 G-A)RG-316
RG-320
RG-428
Tuberous Sclerosis, Type 2 GENEA086
GENEA087
Turner SyndromeMosaic cell line, X0CSES24
Vitelliform Macular Dystrophy GENEA069
GENEA070
Von Hippel-Lindau Disease GENEA060
GENEA061
KCL015
affecting splicing site 676+3A>TKCL016
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 MutationCell Lines
Amyotrophic Lateral SclerosisALS, (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) gene27b
27e
 ALS-iPS1
ALS-iPS2
Cockayne SyndromeERCC6 gene, 2282 C>T transitionCSB-iPSC cl1
CSB-iPSC cl2
CSB-iPSC cl3
Crigler-Najjar SyndromeUGT1A1, p.Leu413Pro CNS1-hiPSC10
CNS2-hiPSC7
Cystic Fibrosis CF-RiPS-1.2
CF-RiPS-1.3
CF-RiPS-1.4
homozygous DF508 mutant CFTR genotypeDF508 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 syndromeTrisomy 21DS1-IPS4
DS2-IPS1
DS2-IPS10
EmphysemaAAT deficiency, PiZZ phenotypeRC2 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 IIIGD, (AAC > AGC, exon 9, G-insertion, nucleotide
84 of cDNA, GBA gene)
GD-IPS1
GD-IPS3
Glycogen Storage Disease, Type 1bSLC37A, c.1124-2A>GGSD-hiPSC7
Huntington diseaseHD, (72 CAG repeats, huntingtin gene)HD-IPS1
HD-IPS4
HD-IPS11
Hutchinson-Gilford ProgeriaLMNA gene, 2036 C>T transition

HGPS-iPSC#1
HGPS-iPSC#2
HGPS-iPSC#3
HGPS-iPSC#4
HGPS-iPSC#5
HGPS-iPSC#6

LMNA gene, 1824 C>T transitionPG1-IPS-1
PG1-IPS-2
PG2-IPS-1
PG2-IPS-2
Juvenile diabetes mellitusmultifactorialJDM-IPS1
JDM-IPS2
JDM-IPS4
Lesch-Nyhan syndrome, carrierheterozygosity of HPRT1LNSC-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, BeckerBMD, Unidentified mutation in dystrophinBMD-IPS1
BMD-IPS4
Muscular Dystrophy, Duchenne 

DMD-iPS (DYS-HAC)1
DMD-iPS (DYS-HAC)2
DMD-iPS (DYS-HAC)3
DMD-iPS (DYS-HAC)4
DMD-iPS (DYS-HAC)5
DMD-iPS (DYS-HAC)6
DMD-iPS (DYS-HAC)7
DMD-iPS (DYS-HAC)8
DMD-iPS (DYS-HAC)9
DMD-iPS1
DMD-iPS2

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 mutationiMPD562.C.3
iMPD562.C2
Parkinson diseasemultifactorialPD-IPS1
PD-IPS5
PD-IPS11
PD-IPS1
PD-IPS2
Progressive familial hereditary cholestasismultifactorialHER1-hiPSC1
SchizophreniaDISC1 mutationD1-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 repeatsOPCA-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 1FAH gene, GLN64His mutationTYR1-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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