Chunk #24 — RESULTS — Functional analysis of rs10889356 at the ANGPTL3/DOCK7 locus

Source

Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.

Embedded

yes

Text

Second, in the same H7 hPSC background (G/G, major/major), we used multiplexed CRISPR-Cas9 to delete 36–39 bp around the SNP (Figure 4C). Homozygous deletion of 36–39 bp in undifferentiated H7 cells decreased expression of DOCK7 (down 8%) (Figure 4E). When differentiated into HLCs, homozygous deleted H7 cells had decreased expression of DOCK7 (down 32%) and increased ANGPTL3 expression (up 67%) (Figure 4E). These data are extremely concordant with the data from the homozygous knock-in clones.