Powered by BiozAdditional clones from this iPS cell line (JFNY1, JFNY2 and JFNY4) are available from WiCell.
- Cell Line Alias 01456
- 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.Arg1905Xc.3517dupT, p.Ser1173PhefsX2
- Diagnosis Information Limb-Girdle Muscular Dystrophy, LGMD2B was physican reported. Age of onset (i.e. muscle weakness) 17 years.
- Disease Limb-Girdle Muscular Dystrophy, LGMD2B
- Ethnicity Asian
- Genetic Alteration Mutation DYSF (heterozygous 2 mutations)
- Pubmed Abstract Turan, S et al. "Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived from Patients with Limb Girdle Muscular Dystrophy."Mol Ther 2016 10.1038/mt.2016.40
- Genetically related cell lines Yes
- Provider Jain Foundation
- Collections Dysferlin-Deficient Collection
| Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Info URL |
| WB66644 | TeSR-E8/Matrigel | WiCell | 11 | WiCell Feeder Independent Pluripotent Stem Cell Protocol |