LIMB-GIRDLE MUSCULAR DYSTROPHY 2B/MIYOSHI MYOPATHY TYPE 1- DYSFERLIN GENE MUTATION LGMD2B/MIYOSHI IPS CELL LINES (INCLUDING AFFECTED, CARRIER, AND CONTROL CELL LINES) FROM JAIN FOUNDATION

This iPSC collection, which was deposited by the Jain Foundation, serves as a model for the dysferlin gene mutation. Mutations in the dysferlin gene are found in a group of diseases known as limb-girdle muscular dystrophy type 2B and Miyoshi myopathy type 1 (LGMD2B/MMD1). The affected cell lines available in this collection carry two heterozygous alleles with genetic mutations in dysferlin. 

This collection consists of iPSC clones derived from 3 affected donors who are dysferlin protein deficient, 1 carrier who is heterozygous for a dysferlin mutation, and 1 unrelated control. 

The provider notes the following: The donor for the HZ 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 the HZ line. An alternate dysferlin antibody (Leica NCL-Hamlet) targeting the C-terminal region of dysferlin does show reactivity with muscle cells derived from the HZ line.  Bear this in mind when designing experiments using the HZ iPSCs.


For more information on LGMD2B/Miyoshi, visit 
Jain Foundation Learning Center.  

Additional information regarding relationships can be found 
here.


Cell Lines 26 Cell Lines
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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
JFHZ2   Human iPS Carrier of Limb-Girdle Muscular Dystrophy  DYSF (heterozygous 1 mutation)  Male 32 Years Asian  Yes No
JFHZ3   Human iPS Carrier of Limb-Girdle Muscular Dystrophy  DYSF (heterozygous 1 mutation)  Male 32 Years Asian  Yes No
JFHZ4   Human iPS Carrier of Limb-Girdle Muscular Dystrophy  DYSF (heterozygous 1 mutation)  Male 32 Years Asian  Yes No
JFHZ5   Human iPS Carrier of Limb-Girdle Muscular Dystrophy  DYSF (heterozygous 1 mutation)  Male 32 Years Asian  Yes No
JFHZ6   Human iPS Carrier of Limb-Girdle Muscular Dystrophy  DYSF (heterozygous 1 mutation)  Male 32 Years Asian  Yes No
JFMD1   Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B  DYSF (heterozygous 2 mutations)  Male 50 Years Caucasian  No No
JFMD2   Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B  DYSF (heterozygous 2 mutations)  Male 50 Years Caucasian  No No
JFMD3   Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B  DYSF (heterozygous 2 mutations)  Male 50 Years Caucasian  No No
JFMD4   Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B  DYSF (heterozygous 2 mutations)  Male 50 Years Caucasian  No No
JFMD5   Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B  DYSF (heterozygous 2 mutations)  Male 50 Years Caucasian  No No
Cell Lines 26 Cell Lines
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