Generation and characterization of three human induced pluripotent stem cell lines (iPSC) from two family members with dilated cardiomyopathy and left ventricular noncompaction (DCM-LVNC) and one healthy heterozygote sibling
Summary
Autophagy serves as a master regulator of cellular homeostasis. Hence, expectedly autophagic dysfunction has been documented in many diseases such as cancer, neurodegeneration and cardiovascular disorders. A novel homozygous mutation in PLEKHM2 gene (mPLEKHM2) resulted in dilated cardiomyopathy with left ventricular noncompaction (DCM-LVNC), probably as result of impaired autophagy due to disruption of lysosomal movement assisted by PLEKHM2. Here we report a generation of three iPSC lines, four clones originated from two patients with homozygous mPLEKHM2 and two from a heterozygote sibling. All generated lines highly expressed pluripotency markers, spontaneously differentiated into three germ layers, retained the mutation after reprogramming and displayed normal karyotypes. Copyright © 2021. Published by Elsevier B.V.
| Authors | Ben-Zvi H, Korover N, Rabinski T, Ofir R, Cohen S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102382 |
| PubMed | 34088011 |
| DOI | 10.1016/j.scr.2021.102382 |