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. 

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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