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Chunk #19 — RESULTS — Functional analysis of rs2277862 at the CPNE1/ERGIC3 locus

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Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.
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Second, in two hPSC lines, HUES 8 and H7 (T/T, minor/minor at rs2277862), we used multiplexed CRISPR-Cas9 to cleanly and efficiently delete ~38 bp around the SNP (168/285 clones) (Figure 3B), which was far more efficient than knock-in. Homozygous deletion of 38 bp in undifferentiated HUES 8 cells decreased expression of CPNE1 (down 31%) and ERGIC3 (down 20%), whereas homozygous deletion in undifferentiated H7 cells did not affect CPNE1 and decreased expression of ERGIC3 to a lesser degree (down 10%) (Figure 3C). These data are concordant with the data from the heterozygous knock-in clone.