JFNY3
Additional clones from this iPS cell line (JFNY1, JFNY2 and JFNY4) are available from WiCell.
|
Cell Line Alias
|
01456 |
|
Cell Type
|
Human iPS |
|
Disease
|
Limb-Girdle Muscular Dystrophy, LGMD2B |
|
Diagnosis Information
|
Limb-Girdle Muscular Dystrophy, LGMD2B was physican reported. Age of onset (i.e. muscle weakness) 17 years. |
|
Genetic Alteration/Mutation
|
DYSF (heterozygous 2 mutations) |
|
Genetic Alteration/Mutation Information
|
c.5713C>T, p.Arg1905Xc.3517dupT, p.Ser1173PhefsX2 |
|
Sex
|
Male |
|
Age at Collection
|
32 Years |
|
Ethnicity
|
Asian |
|
Genetically Related Cell Lines
|
|
|
Reprogramming Method
|
Non-integrating (OCT4, SOX2, NANOG, LIN28, L-MYC, KLF4, SV40LT) |
|
Tissue Origin
|
Blood |
|
Provider
|
Jain Foundation
|
|
dbGaP Data
|
|
|
hPSCReg ID
|
|
|
NIH Approval
|
|
|
Pub Med Abstract
|
|
|
Collection(s)
|
Dysferlin-Deficient Collection
|
