JFMD5
Additional clones from this iPS cell line (JFMD1, JFMD2, JFMD3, JFMD4 and JFMD6) are available from WiCell.
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Cell Line Alias
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01458 |
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Cell Type
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Human iPS |
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Disease
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Limb-Girdle Muscular Dystrophy, LGMD2B |
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Diagnosis Information
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Limb-Girdle Muscular Dystrophy, LGMD2B was physican reported. Age of onset (i.e. muscle weakness) 18 years. |
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Genetic Alteration/Mutation
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DYSF (heterozygous 2 mutations) |
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Genetic Alteration/Mutation Information
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c.879_883dupGACAG; p.Asp295GlyfsX45deletion of exon 52 |
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Sex
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Male |
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Age at Collection
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50 Years |
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Ethnicity
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Caucasian |
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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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