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

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

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...

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Bibliographic Details
Main Authors: Ilse R. Kelters, Devin Verbueken, Tess Beekink, Linda W. Van Laake, Joost P.G. Sluijter, Renee G.C. Maas, Jan W. Buikema
Format: Article
Language:English
Published: Elsevier 2024-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124001958

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http://www.sciencedirect.com/science/article/pii/S1873506124001958

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