However, our previous study suggests that IKAP/hELP1 expression is much higher in peripheral neurons derived from human embryonic stem cells (hESC) compared to primary fibroblasts [22], and fibroblasts do not exhibit the same ratio of IKBKAP exon 20 including: exon 20 skipping transcripts as observed in nervous system-derived tissues of FD patients [5]. Here, ELP1 is linked to Fabry disease.