Transcriptional profiling of Myotonic dystrophy muscle and heart. Homo sapiens

Autopsy and biopsy muscle and heart tissue was collected from consented human subjects with and without confirmed myotonic dystrophy type 1, myotonic dystrophy type 2, or Duchenne muscular dystrophy. RNA was isolated for preparation of RNAseq libraries and sequenced on the Illumina platform. Overall design: 126 samples, comprising 103 distinct individuals, were sequenced. In some cases, several tissues from the same individual were obtained (the anonymized patient identifier can be used to link these). Samples were obtained from 4 different centers around the world (anonymized center identifiers can be used to track these).

研究人员从签署知情同意书的人类受试者中采集了解剖及活检获取的肌肉与心脏组织，受试者包含确诊为1型肌强直性营养不良（myotonic dystrophy type 1）、2型肌强直性营养不良（myotonic dystrophy type 2）或杜氏肌营养不良症（Duchenne muscular dystrophy）的个体，以及无上述病症的健康对照个体。随后提取组织中的RNA以制备RNA测序（RNAseq）文库，并在伊卢米纳（Illumina）测序平台完成测序。整体实验设计：本次测序共涉及126份样本，涵盖103名独立个体；部分样本取自同一受试者的多份组织，可通过匿名化患者标识符关联同个体的不同样本。所有样本均采集自全球4个不同的研究中心，可通过匿名化中心标识符追踪样本来源。