Article
Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene.
Stem cell research - 1 Jul 2021
Ababneh Nidaa A, Barham Raghda, Al-Kurdi Ban, Ali Dema, Sharar Nour, Al Hadidi Sabal, Alatoom Renata M, Zalloum Suzan, Gharandouq Mohammad H, Makahleh Leen, Alnsour Leena N, Alshahwan Hebah, El-Khateeb Mohammed, Awidi Abdalla
Abstract excerpt
Limb-girdle muscular dystrophies (LGMDs) are a large group of heterogenous genetic diseases characterized by muscle weakness. In this study, an induced pluripotent stem cell (iPSC) line was generated from LGMD patient's skin dermal fibroblasts, carrying a homozygous mutation in the Sarcoglycan Beta (SGCB) gene; chr4:52890221, c. 859 delC, p.Lue 287Ser fs14*. The reprogramming process was carried out using Sendai...
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