JFHZ6
The provider notes the following: The donor for this cell line has been genetically confirmed to be heterozygous, and to express dysferlin at a lower level than the donor for the WT line. However, for reasons that are unclear, the Romeo antibody (Epitomics #5140-1) which targets the N-terminal region of dysferlin, does not show reactivity with muscle cells derived from this cell line. An alternate dysferlin antibody (Leica NCL-Hamlet) targeting the C-terminal region of dysferlin does show reactivity with muscle cells derived from this cell line. Bear this in mind when designing experiments using this cell line.
Additional clones from this iPS cell line (JFHZ2, JFHZ3, JFHZ4 and JFHZ5) are available from WiCell.
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Cell Line Alias
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01460 |
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Cell Type
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Human iPS |
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Disease
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Carrier of Limb-Girdle Muscular Dystrophy |
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Genetic Alteration/Mutation
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DYSF (heterozygous 1 mutation) |
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Genetic Alteration/Mutation Information
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c.5713C>T, p.Arg1905X |
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Sex
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Male |
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Age at Collection
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32 Years |
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Ethnicity
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Asian |
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Genetically Related Cell Lines
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Reprogramming Method
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Non-integrating (OCT4, SOX2, NANOG, LIN28, L-MYC, KLF4, SV40LT) |
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Tissue Origin
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Blood |
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Provider
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Jain Foundation
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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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Dysferlin-Deficient Collection
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