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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 |
|---|---|---|---|---|---|---|---|---|---|
Human iPS | Charcot-Marie-Tooth disease type 2A | H361y mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene | Male | Yes | No | ||||
Human iPS | Charcot-Marie-Tooth disease type 2A | H361y mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene | Male | Yes | No | ||||
Human iPS | Charcot-Marie-Tooth disease type 2A | H361y mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene | Male | Yes | No | ||||
Human iPS | None reported | Male | Yes | No | |||||
Human iPS | None reported | Male | Yes | No | |||||
Human iPS | None reported | Male | Yes | No | |||||
SMA-1 | Human iPS | Spinal Muscular Atrophy (Type II) | 3 copies of SMN2 gene with homozygous deletion of exons 7 and 8 in SMN1 gene | Male | 3 Years | Caucasian | Yes | No | |
Contl-2 | Human iPS | Carrier of Spinal Muscular Atrophy (Type II) | 5 copies of SMN2 gene with heterozygous deletion of exons 7 and 8 in the SMN1 gene | Female | Caucasian | Yes | No | ||
Contl-3 | Human iPS | Carrier of Spinal Muscular Atrophy (Type II) | 1 copy of SMN2 gene | Male | Caucasian | Yes | No | ||
SMA-2 | Human iPS | Spinal Muscular Atrophy (Type I) | 3 copies of SMN2 gene with homozygous deletion of exons 7 and 8 in SMN1 gene | Male | 2 Years | Caucasian | No | No |