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
| Title | 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 |
|---|---|
| Acronym | hiPSC-CRYAB |
| Start date | |
| End date | |
| Sponsor | Dutch Heart Foundation |
| Institution | University Medical Center Utrecht - dept. Heart & Lungs |
Associated cell lines
- UMCUi001-A (CRYAB-A527G-11C1)
- UMCUi002-A (CRYAB-A527G-12C6)
- UMCUi003-A (CRYAB-A527G-91C10)
- UMCUi004-A (CRYAB-A527G-92C25)
Project Description
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 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.