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List of hESC lines with genetic disorders

Click on Line ID to see Origins of the line, Click Genetic Disorder to see line's details.

Line ID
  Genetic Disorder
SI-TL
  (FMR1) Fragile Site Mental Retardation 1
SI-125
O(FMR1) Fragile Site Mental Retardation 1, carrier (> 500 repeats)
O(FANCA) Fanconi Anemia, Complementation Group A
O(NF1) Neurofibromatosis Type I
O(NF1) Neurofibromatosis Type I
O(NF1) Neurofibromatosis Type I
O(NF1) Neurofibromatosis Type I
O(NF1) Neurofibromatosis Type I
O(DMPK) Dystrophia Myotonica 1
O(DMPK) Dystrophia Myotonica 1
O(FBN1) Marfan Syndrome
SI-158
O(HBB) Hemoglobin Beta Locus
O(HBB) Hemoglobin Beta Locus
O(DMD) Muscular Dystrophy
  (DMD) Muscular Dystrophy
O(HTT) Huntington Disease
O(HTT) Huntington Disease
  (HTT) Huntington Disease
O(ABCD1) Adrenoleukodystrophy
SI-213
  (HBB) Hemoglobin Beta Locus
  (FMR1) Fragile Site Mental Retardation 1
O(HTT) Huntington Disease
O(HBB) Hemoglobin Beta Locus
O(HBB) Hemoglobin Beta Locus
SI-235
SI-245
SI-246
  (HBB) Hemoglobin Beta Locus
SI-271
SI-274
SI-277 O(HBB) Hemoglobin Beta Locus
SI-279   (GPR143) Ocular Albinism Type 1
SI-283   (DMD) Muscular Dystrophy
SI-285   (GPR143) Ocular Albinism Type 1
SI-288   (CFTR) Cystic Fibrosis
SI-289   (CFTR) Cystic Fibrosis
SI-301   (DMD) Muscular Dystrophy
SI-302   (DMD) Muscular Dystrophy
SI-315   (NF1) Neurofibromatosis Type I I
SI-316   (TSC1) Tuberous Sclerosis Type 1
SI-317   (TSC1) Tuberous Sclerosis Type 1
SI-320   (TSC1) Tuberous Sclerosis Type 1
SI-323   (HEXB) Sandhoff Disease
SI-324   (HEXB) Sandhoff Disease
SI-326   (IRF6) Popliteal Pterygium Snydrome
SI-328   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-329   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-330   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-333   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-356   (HBA) Hemoglobin Alpha Locus
SI-357   (EMD) Emery-Dreifuss Muscular Dystrophy, X-Linked
SI-358   (EMD) Emery-Dreifuss Muscular Dystrophy, X-Linked
SI-386   (TOR1A) Torsion Dystonia 1, Autosomal Dominant
SI-395   (HEXB) Sandhoff Disease
SI-396   (HTT) Huntington Disease
SI-397   (HTT) Huntington Disease
SI-399   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-401   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-402   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-403   (FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
SI-404   (SMN1) Spinal Muscular Atrophy Type I
SI-405   (HBB) Hemoglobin Beta Locus
SI-406   (TOR1A) Torsion Dystonia 1, Autosomal Dominant
SI-407   (TCOF1) Treacher Collins-Franceschetti Syndrome
SI-408   (TCOF1) Treacher Collins-Franceschetti Syndrome
SI-410   (CFTR) Cystic Fibrosis
SI-411   (CFTR) Cystic Fibrosis
SI-412   (CFTR) Cystic Fibrosis
SI-413   (BRCA2) Breast Cancer & (MEN1) Multiple Endocrine Neoplasia Type I
SI-414   (BRCA2) Breast Cancer & (MEN1) Multiple Endocrine Neoplasia Type I
SI-415   (HTT) Huntington Disease
SI-416   (CFTR) Cystic Fibrosis
SI-417   (CFTR) Cystic Fibrosis
SI-418   (HBB) Hemoglobin Beta Locus
SI-420   (HBB) Hemoglobin Beta Locus
SI-421   (CFTR) Cystic Fibrosis
SI-422   (CFTR) Cystic Fibrosis
SI-423   (CFTR) Cystic Fibrosis
SI-424   (MEN1) Multiple Endocrine Neoplasia Type I
SI-426   (PLP1) Pelizaeus-Merzbacher Disease
SI-428   (TSC1) Tuberous Sclerosis Type 1
   

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