GSE138161
Isogenic patient-derived human iPSCs, wild-type or heterozygous for PIK3CA-E418K
The PIK3CA-related overgrowth syndrome (PROS) patient-derived induced pluripotent stem cell (iPSC) lines M98-WT and M98-E418K were obtained from a female, 18-y-old PROS patient by episomal reprogramming of a dermal fibroblast culture with 32% mosaicism for PIK3CA-E418K heterozygosity. All clones used for experimental studies were confirmed transgene-free and expressed high levels of pluripotent stem cell-specific markers, comparable to those of a reference hPSC line. Karyotyping on a single line from each genotype confirmed lack of microscopic genetic rearrangements. The original patient-derived dermal fibroblasts were obtained with full informed consent in accord with the Declaration of Helsinki. The study was approved by The Cambridge South Ethics. Overall design: 3 iPSC cultures wild-type for PIK3CA (from two independent clones) and 3 PIK3CA-WT/E418K cultures (from three independent clones) profiled by single-end RNA sequencing.