Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene

[摘要] 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.

[学科分类] 生理学