Key result
Three iPSC lines were successfully generated from two patients with DCM-LVNC carrying a homozygous PLEKHM2 mutation and one healthy heterozygote sibling, expressing pluripotency markers.
The generation of these iPSC lines provides a valuable in vitro model for studying the mechanisms of DCM-LVNC associated with PLEKHM2 mutations.
iPSC lines from PLEKHM2-mutant patients enable DCM-LVNC modeling; leaves open clinical translation pending validation.
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.
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Ben-Zvi et al. (2021) studied Dilated cardiomyopathy and left ventricular noncompaction (DCM-LVNC) (n=3). Homozygous PLEKHM2 mutation vs. Heterozygote sibling (healthy) was evaluated on Generation and characterization of iPSC lines. Three iPSC lines were successfully generated from two patients with DCM-LVNC carrying a homozygous PLEKHM2 mutation and one healthy heterozygote sibling, expressing pluripotency markers.
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