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. 2022 Dec 29;32(9):1511–1523. doi: 10.1093/hmg/ddac306

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© The Author(s) 2022. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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The expression level of DOK7, the phosphorylation of MuSK and the formation of aggregates in patient-derived CMS-iPSCs and isogenic CMS-iPSC^Cas9. (A) Representative western blotting of DOK7 in myogenically differentiated iPSCs on Day 8. Low expression level of DOK7 necessitated the enrichment of DOK7 by immunoprecipitation (IP) before immunoblotting (IB). Anti-DOK7 antibodies are indicated in parentheses. (B) Phosphorylated MuSK was immunoblotted (IB) by an anti-phosphotyrosine antibody (PY) after immunoprecipitation (IP) of MuSK. (C) Representative immunostaining of DOK7 and HSP70 in CMS-iPSC- and CMS-iPSC^Cas9-derived myogenic cells. Juxtanuclear aggregates are indicated by dotted circles. Scale bar = 10 μm. (D) The number of juxtanuclear aggregates was blindly counted in five visual fields (~30 nuclei each). Mean and SD are plotted. ^{^*^*^*}P = 0.005 by Student’s t-test.