Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms.

doi:10.1016/j.scr.2024.103304

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Article

Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms.

Stem cell research - 1 Mar 2024

Binder Stephanie, Ramachandran Haribaskar, Hildebrandt Barbara, Dobner Jochen, Rossi Andrea

Abstract excerpt

Beta-actin (ACTB) heterozygous loss-of-function mutations are associated with pleiotropic developmental disorders entailing intellectual disability and frequent organ malformations in affected individuals. We generated two CRISPR/Cas9 prime-edited human induced pluripotent stem cell (iPSC) lines, IUFi004-A-1 and IUFi004-A-2, carrying a heterozygous missense mutation in exon 4 of ACTB. Mutant iPSCs exhibited...

Topics

Humans
Induced Pluripotent Stem Cells
Actins
Mutation
Cell Differentiation
Intellectual Disability
CRISPR-Cas Systems

Source

Open in PubMed

Identifiers

PMID: 38217996
DOI: 10.1016/j.scr.2024.103304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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