从一名因SGCB基因纯合p.Lue287Ser fs14*突变导致的肢带型肌营养不良（LGMD）患者中生成诱导多能干细胞（iPSC）系（JUCTCi017-A）。

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.

作者信息

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

机构信息

Cell Therapy Center, the University of Jordan, Amman, Jordan.

出版信息

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

DOI:10.1016/j.scr.2021.102358

PMID:34087734

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.

摘要

肢带型肌营养不良症（LGMDs）是一大类以肌肉无力为特征的异质性遗传疾病。在本研究中，从一名LGMD患者的皮肤真皮成纤维细胞中生成了诱导多能干细胞（iPSC）系，该患者在肌聚糖β（SGCB）基因中携带纯合突变；染色体4：52890221，c. 859 delC，p.Lue 287Ser fs14*。重编程过程使用编码山中因子的仙台病毒进行。所得的iPSC表现出正常的形态和核型，表达多能性标志物，在体外具有分化为三个胚层的潜力，并保留了致病的SGCB突变。该iPSC系是研究LGMD疾病机制的理想细胞来源。