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Table 1 Methylation analysis of chromosome 15q11-q13.1 duplication syndrome (Dup15q) induced pluripotent stem cells (iPSCs) at the Prader-Willi syndrome imprinting center (PWS-IC)

From: Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1

Cell line % methylated at PWS-ICa
mat. Int dup(15) 66.57 ± 0.92
mat. Int dup(15)-02 66.15 ± 2.12
mat. Int dup(15)-12b 65.64 ± 3.25
pat. Int dup(15) 25.31 ± 1.46
pat. Int dup(15)-04 23.53 ± 2.93
Idic 76.94 ± 5.02
Idic1-8 72.43 ± 1.00
IdicCB 77.35 ± 3.52
IdicCB-07 79.49 ± 5.03
IdicCB-09 72.29 ± 9.69
  1. aDNA methylation at the PWS-IC was assayed by methylation specific qPCR using genomic DNA from Dup15q iPSCs. The average calculated percent methylation from all clones within a genotype is presented plus or minus the standard deviation in bold text. The averages calculated for percent methylation from three replicate assays each for selected clones plus or minus the standard deviation are shown in plain text. bThe mat. int dup(15)-12 cell line was originally identified as an isogenic normal clone derived from the individual with maternal interstitial duplication. However, methylation analysis after approximately 25 subsequent passages suggests that this clone was mosaic and resolved to contain predominantly duplication containing cells. PWS-IC, Prader-Willi syndrome imprinting center; mat. Int dup(15), maternal interstitial duplication of 15q11-q13.1; pat. Int dup(15), paternal interstitial duplication of 15q11-q13.1; Idic, isodicentric chromosome 15; IdicCB, isodicentric chromosome 15 cord blood derived sample.