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 age, sex, status, and relationships may be found here

Cell Lines 16 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
JFHZ1 JF10 Human iPS Carrier of Limb-Girdle Muscular Dystrophy DYSF (heterozygous 1 mutation) Male 32 years Asian Yes No
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
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
JFNY1 JF25 Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B DYSF (heterozygous 2 mutations) Male 32 years Asian Yes No
JFRBi1 Human iPS Limb-Girdle Muscular Dystrophy, LGMD2B DYSF (heterozygous 2 mutations) Male 48 years Caucasian No No
Cell Lines 16 Cell Lines
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