CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses

Summary

Heterozygous beta-actin (ACTB) indel and nonsense mutations are linked to developmental disorders. We generated two CRISPR/Cas9 human induced pluripotent stem cell (iPSC) lines, WTSIi018-B-19 and WTSIi018-B-20, carrying heterozygous and homozygous indel mutations in ACTB exon 4. Both iPSCs exhibited normal cell morphology, expression of pluripotency markers, and the ability to differentiate into the three primary germ layers. While iPSCs with a heterozygous ACTB mutation maintain genome integrity, homozygous mutants showed a loss of heterozygosity in chromosome three. These mutants provide a powerful model to study the onset, progression, and complex interplay of genetic compensation and phenotypic variation of ACTB-related diseases. Copyright © 2024. Published by Elsevier B.V.

Authors Binder S, Ramachandran H, Haslinger D, Hildebrandt B, Dobner J, Haarmann-Stemmann T, Chiocchetti A, Rossi A
Journal Stem cell research
Publication Date 2024 Jun;77:103395
PubMed 38518401
DOI 10.1016/j.scr.2024.103395

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