Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1) from a patient with sudden onset dilated cardiomyopathy harboring a FLNC p.R2187P mutation
Summary
Filamin C (FLNC) is a highly important actin crosslinker and multi-adaptor protein in striated skeletal and cardiac muscle. Mutations have been linked to a range of cardiomyopathy types. Here, we generated induced pluripotent stem cells (iPSC) from a patient with dilated cardiomyopathy (DCM) harboring a new, unique heterozygous FLNC mutation p.R2187P. From this patient-specific iPSC line, a corresponding isogenic control line was created by CRISPR/Cas9 genome editing. Both, the patient-specific and isogenic-control iPSC maintained full pluripotency, genomic integrity, and in vitro differentiation capacity. All iPSC lines differentiate into iPSC-cardiomyocytes, hence providing the possibility to study the pathogenesis of FLNC-mediated DCM further. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Maurer W, Rebs S, Köhne S, Eberl H, Wollnik B, Zibat A, Streckfuss-Bömeke K |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Mar 29;77:103409 |
| PubMed | 38583294 |
| DOI | 10.1016/j.scr.2024.103409 |