Rui Qiang, Tan Jing, Jin Jing, Ye Weijiao, Zhou Yaping, Chen Junqing
Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China.
Department of Human Anatomy and Histoembryology, Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China.
Stem Cell Res. 2022 Dec;65:102957. doi: 10.1016/j.scr.2022.102957. Epub 2022 Oct 31.
LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene. Here, we established an induced pluripotent stem cell line from a MDC1A patient carrying a frameshift deletion c.3367delA in LAMA2 gene. The iPSC line expressed pluripotency markers, retained normal karyotype, showed capability of differentiating into three germ layers. The iPSC line will help to further elucidate the pathogenic mechanisms of LAMA2 mutation, and benefit treatment for congenital muscular dystrophies in the future.
层粘连蛋白α2相关先天性肌营养不良（MDC1A）是最常见的先天性肌营养不良类型，是一种由LAMA2基因隐性突变引起的严重新生儿期发病的肌肉疾病。在此，我们从一名携带LAMA2基因移码缺失c.3367delA的MDC1A患者中建立了诱导多能干细胞系。该诱导多能干细胞系表达多能性标志物，保持正常核型，具有分化为三个胚层的能力。该诱导多能干细胞系将有助于进一步阐明LAMA2突变的致病机制，并为未来先天性肌营养不良的治疗带来益处。
