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.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
received:
06
12
2020
revised:
01
04
2021
accepted:
29
04
2021
entrez:
5
6
2021
pubmed:
6
6
2021
medline:
1
7
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34088011
pii: S1873-5061(21)00228-2
doi: 10.1016/j.scr.2021.102382
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102382Informations de copyright
Copyright © 2021. Published by Elsevier B.V.