GSM9486469: Skin punch biopsy, carrier mum, rep 1; Homo sapiens; RNA-Seq
Total RNA from fibroblast cells was extracted using TRIZOL® reagent (Thermo Fisher Scientific) following manufacturer's instructions, quantified on a Multiskan GO spectrophotometer, and quality-assessed using the TapeStation 4200 (Agilent). Three cellular replicates per patients were processed. Ribosomal RNA was removed using the RiboCop kit (Lexogen), and RNA-seq libraries were prepared with the CORALL Total RNA-Seq Library Prep Kit (Lexogen) using 500 ng total RNA. The quality and quantity of the prepared libraries was assessed with D1000 ScreenTape Assay using the 4200 TapeStation System (Agilent). Libraries were sequenced using 75 bp paired-end reads on the Illumina NextSeq 500 platform (Illumina).