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
| Autor: | Raghda Barham, Abdalla Awidi, Renata M. Alatoom, Ban Al-Kurdi, Suzan Zalloum, Mohammed El-Khateeb, Nidaa A. Ababneh, Sabal Al Hadidi, Mohammad H. Gharandouq, Dema Ali, Leen Makahleh, Leena N. Alnsour, Hebah Alshahwan, Nour Sharar |
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| Rok vydání: | 2021 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine QH301-705.5 Induced Pluripotent Stem Cells Germ layer Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Sarcoglycans medicine Humans Biology (General) Induced pluripotent stem cell Gene Mutation Homozygote Muscle weakness Cell Biology General Medicine medicine.disease Sarcoglycan 030104 developmental biology Muscular Dystrophies Limb-Girdle Cancer research medicine.symptom Reprogramming 030217 neurology & neurosurgery Developmental Biology Limb-girdle muscular dystrophy |
| Zdroj: | Stem Cell Research, Vol 54, Iss, Pp 102358-(2021) |
| ISSN: | 1873-5061 |
| Popis: | 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. Resource Table |
| Databáze: | OpenAIRE |
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