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

被引：0
|
作者：
Kelters, Ilse R. [1 ,2 ]
Verbueken, Devin [3 ,4 ]
Beekink, Tess [1 ]
Van Laake, Linda W. [2 ]
Sluijter, Joost P. G. [1 ,2 ]
Maas, Renee G. C. [1 ,2 ]
Buikema, Jan W. [3 ,4 ]
机构：
[1] Univ Utrecht, Univ Med Ctr Utrecht, Utrecht Regenerat Med Ctr, Dept Cardiol,Circulatory Hlth Lab, NL-3508 GA Utrecht, Netherlands
[2] Univ Med Ctr Utrecht, Dept Heart & Lungs, Expt Cardiol Lab, Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands
[3] Univ Amsterdam, VU Univ, Dept Physiol, Amsterdam Cardiovasc Sci,Med Ctr, Boelelaan 1108, NL-1081 HZ Amsterdam, Netherlands
[4] Univ Amsterdam, Amsterdam Heart Ctr, Dept Cardiol, Med Ctr, Boelelaan 1117, NL-1081 HZ Amsterdam, Netherlands
来源：
STEM CELL RESEARCH | 2024年 / 80卷
关键词：
D O I：
10.1016/j.scr.2024.103497
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
A newly identified pathogenic variant (A527G) in alpha B-crystallin (alpha B-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 mononuclear cells (PBMCs) were reprogrammed using integration-free Sendai viral pluripotency vectors. The established hiPSCs clones exhibited regular ESC-like morphology, expression of pluripotency markers, and normal karyotyping. These hiPSC lines can facilitate future studies to understand the chaperone function and its role in DCM disease progression.
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