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

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

doi:10.1016/j.scr.2021.102358

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 Res. 2021 Jul:54:102358. doi: 10.1016/j.scr.2021.102358. Epub 2021 May 11.

Authors

Affiliations

¹ Cell Therapy Center, the University of Jordan, Amman, Jordan. Electronic address: n.ababneh@ju.edu.jo.
² Cell Therapy Center, the University of Jordan, Amman, Jordan.
³ Hemostasis and Thrombosis Laboratory, School of Medicine, the University of Jordan, Amman, Jordan.
⁴ School of Medicine, the University of Jordan, Amman, Jordan.
⁵ Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan.
⁶ National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan.
⁷ Cell Therapy Center, the University of Jordan, Amman, Jordan; Hemostasis and Thrombosis Laboratory, School of Medicine, the University of Jordan, Amman, Jordan; Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan.

PMID: 34087734
DOI: 10.1016/j.scr.2021.102358

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Homozygote
Humans
Induced Pluripotent Stem Cells*
Muscular Dystrophies, Limb-Girdle* / genetics
Mutation
Sarcoglycans / genetics

Substances

SGCB protein, human
Sarcoglycans