Charcot-Marie-Tooth disease Collection
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders that comprises a group of disorders that affect peripheral nerves. This iPSC collection serves as a model for CMT and consists of both control and CMT2A cell lines. CMT2A is the most common axonal form of CMT caused by mutation in Mitofusin 2 (MFN2). iPSCs were created by reprogramming of two human CMT2A fibroblast lines.
Additional information regarding relationships can be found here.
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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 | S249T mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene | Male | No | No | ||||
Human iPS | Charcot-Marie-Tooth disease type 2A | S249T mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene | Male | No | No | ||||
Human iPS | Charcot-Marie-Tooth disease type 2A | S249T mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene | Male | No | 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 | 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 |