Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518 + 512 T > A variant in the DMD gene

[摘要] Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative disease characterized by progressive weakness of limbs. In this study, we generated an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts with non-integrating Sendai virus. The patient carried a rare c.4518 + 512 T > A variant in the DMD gene. This iPSC line displayed normal iPSC morphology, karyotypes and pluripotency expression markers, and also can be differentiated into the three germ layers.

[学科分类] 生理学