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
oleh: Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Nour Sharar, Sabal Al Hadidi, Renata M. Alatoom, Suzan Zalloum, Mohammad H. Gharandouq, Leen Makahleh, Leena N. Alnsour, Hebah Alshahwan, Mohammed El-Khateeb, Abdalla Awidi
| Format: | Article |
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| Diterbitkan: | Elsevier 2021-07-01 |
Deskripsi
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 viruses encoding for Yamanaka factors. The resulting iPSCs showed normal morphology and karyotype, expressed pluripotency markers, demonstrated the potential to differentiate in vitro into three germ layers and retained the disease-causing SGCB mutation. This iPSC line represents an ideal source of cells for the investigation of LGMD disease mechanisms.