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

Additional clones from this iPS cell line (JFHZ3, JFHZ4, JFHZ5 and JFHZ6) are available from WiCell.

  • Cell Line Alias 01460
  • Unit of Measure (UOM) vial
  • Cell Type Human iPS
  • Sex Male
  • Age at Collection 32 Years
  • Reprogramming Method Non-integrating (OCT4, SOX2, NANOG, LIN28, L-MYC, KLF4, SV40LT)
  • Tissue Origin Blood
  • Genetic Alteration Mutation Information c.5713C>T, p.Arg1905X
  • Disease Carrier of Limb-Girdle Muscular Dystrophy
  • Ethnicity Asian
  • Genetic Alteration Mutation DYSF (heterozygous 1 mutation)
  • Genetically related cell lines Yes
  • Provider Jain Foundation
  • Collections
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Lot Number Culture Platform Lot Description Banked By Passage Number Protocol Product Info URL
DB29769 E8/Matrigel Provider 11 WiCell Feeder Independent Pluripotent Stem Cell Protocol PDF

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