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Cell Line | Cell Line Alias | Cell Type | Disease | Genetic Alteration/Mutation | Sex | Age at Collection | Ethnicity | Genetically Related Cell Lines | dbGaP Data |
|---|---|---|---|---|---|---|---|---|---|
BR-SP-43-1 | Human iPS | Sickle cell anemia SS | A>T mutation in beta globin gene | Male | 21 Years | Latino > South American | Yes | Yes | |
BR-SP-45-1 | Human iPS | Sickle cell anemia SS | A>T mutation in beta globin gene | Female | 20 Years | Latino > South American | Yes | Yes | |
BR-SP-51-1 | Human iPS | Sickle cell anemia SS | A>T mutation in beta globin gene | Male | 34 Years | Latino > South American | No | Yes | |
BT1 | Human iPS | Beta Thalassemia | Hb E / IVS I-1 G>T ??0-thalassemia mutation | Female | 23 Years | Asian | No | Yes | |
BT2 | Human iPS | Beta Thalassemia | Compound heterozygous: IVS I-6 T>C ??+-thalassemia mutation;Codon 39 CAG>TAG or Glun39Term ??0-thalassemia mutation. | Male | 6 Years | African American | No | Yes | |
Human iPS | Choroideremia | Male | 20 Years | Caucasian | No | No | |||
Human iPS | Choroideremia | Male | 57 Years | Caucasian | No | No | |||
Modified Human ES | None reported | Male | No | No | |||||
Human iPS | EIF3F-associated Neurodevelopmental Disorder | Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val) | Female | 6 years | Caucasian > European | No | No | ||
Human iPS | EIF3F-Related Neurodevelopmental Disorder | Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val) | Male | 2 years | Caucasian > European | No | No |