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  

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

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

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-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 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