RNAseq analysis of a patient with heterozygous frame-shift mutation in TRMT1 gene vs a patient with the mutation in homozygosis

Analysis of long RNASeq (>200bp) of RNA obtained from Limphoblastoid cell lines derived from one heterozygous and one homozygous patient for TRMT1 frame-shift mutation Overall design: long RNASeq for 2 conditions (MUT and WT), with biological duplicates.

本研究针对1名携带TRMT1基因移码突变（TRMT1 frame-shift mutation）的杂合子患者与1名纯合子患者来源的淋巴母细胞系（Lymphoblastoid cell lines）提取的RNA，开展了长链RNA测序（long RNASeq，片段长度>200bp）分析。实验整体设计：针对突变型（MUT）与野生型（WT）2种实验条件开展长链RNA测序，并设置生物学重复（biological duplicates）。