Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
01
03
2023
revised:
08
08
2023
accepted:
21
08
2023
medline:
8
9
2023
pubmed:
27
8
2023
entrez:
26
8
2023
Statut:
ppublish
Résumé
Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CRYABhom hiPSC-derived cardiomyocytes developed intracellular CRYAB aggregates, which is a hallmark of DRM. This newly created mutant can be utilized to study DRM and cardiac proteinopathy in a human context.
Identifiants
pubmed: 37633027
pii: S1873-5061(23)00174-5
doi: 10.1016/j.scr.2023.103188
pii:
doi:
Substances chimiques
CRYAB protein, human
0
alpha-Crystallin B Chain
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
103188Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest LC is member of the DiNAQOR Scientific Advisory Board and has shares in DiNAQOR. The remaining authors declare no competing interests.