Article
Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member.
Stem cell research - 1 Oct 2024
Kelters Ilse R, Verbueken Devin, Beekink Tess, Van Laake Linda W, Sluijter Joost P G, Maas Renee G C, Buikema Jan W
Abstract excerpt
A newly identified pathogenic variant (A527G) in alpha B-crystallin (αB-crystallin) has been linked to congenital cataract and young-onset dilated cardiomyopathy (DCM) within a Dutch family, although the disease mechanism remains unclear. Four human induced pluripotent stem cell (hiPSC) clones were generated from three symptomatic patients carrying the A527G variant, and one healthy proband. Peripheral blood...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.