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.