WC012i-CMT2A-1.3
** The karyotype for this cell line may contain a non-clonal finding known to be recurrent in pluripotent stem cells. Please see the karyotype report in the currently distributing lot(s) Product Information & Testing PDF(s) linked below for more information.
Additional clones from this iPS cell line (WC010i-CMT2A-1.1 and WC011i-CMT2A-1.2) are available from WiCell.
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Cell Type
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Human iPS |
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Disease
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Charcot-Marie-Tooth disease type 2A |
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Diagnosis Information
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Diagnosis of Charcot-Marie-Tooth disease type 2A was physician reported. |
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Genetic Alteration/Mutation
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MFN2 |
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Genetic Alteration/Mutation Information
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S249T mutation resulting in a pathogenic variant of the Mitofusin 2 (MFN2) gene
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Sex
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Male |
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Genetically Related Cell Lines
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Reprogramming Method
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Non-Integrating (Episomal Plasmid: Oct4, Klf4, Sox2, cMyc ) |
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Tissue Origin
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Fibroblasts |
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Provider
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University of Wisconsin - Dr. John Svaren
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dbGaP Data
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hPSCReg ID
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NIH Approval
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Pub Med Abstract
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Collection(s)
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Charcot-Marie-Tooth disease Collection
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