scholarly journals Development of a disease model for autosomal recessive osteopetrosis and CRISPR/Cas9-based gene therapeutic approaches in human induced pluripotent stem cells

Bone Reports ◽  
2021 ◽  
Vol 14 ◽  
pp. 100766
Author(s):  
Floriane Hennig ◽  
Uta Rössler ◽  
Nina Stelzer ◽  
Johannes Kopp ◽  
Kent Søe ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Autosomal Recessive ◽  
Disease Model ◽  
Therapeutic Approaches ◽  
Induced Pluripotent ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

2020 ◽  
Vol 42 ◽  
pp. 101660 ◽  
Author(s):  
Gaetana Lanzi ◽  
Rosalba Monica Ferraro ◽  
Stefania Masneri ◽  
Giovanna Piovani ◽  
Chiara Barisani ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Autosomal Recessive ◽  
Induced Pluripotent ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia

2021 ◽  
Vol 22 (3) ◽  
pp. 1161
Author(s):  
Esmeralda Alonso-Barroso ◽  
Belén Pérez ◽  
Lourdes Ruiz Desviat ◽  
Eva Richard
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Ex Vivo ◽  
Disease Model ◽  
Propionic Acidemia ◽  
Heart Tissue ◽  
Altered Expression ◽  
Cellular Models ◽  
Induced Pluripotent

Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the PCCA or PCCB genes encoding both subunits of the mitochondrial propionyl-CoA carboxylase (PCC) enzyme. Cardiac alterations (hypertrophy, dilated cardiomyopathy, long QT) are one of the major causes of mortality in patients surviving the neonatal period. To overcome limitations of current cellular models of PA, we generated induced pluripotent stem cells (iPSCs) from a PA patient with defects in the PCCA gene, and successfully differentiated them into cardiomyocytes. PCCA iPSC-derived cardiomyocytes exhibited reduced oxygen consumption, an accumulation of residual bodies and lipid droplets, and increased ribosomal biogenesis. Furthermore, we found increased protein levels of HERP, GRP78, GRP75, SIG-1R and MFN2, suggesting endoplasmic reticulum stress and calcium perturbations in these cells. We also analyzed a series of heart-enriched miRNAs previously found deregulated in the heart tissue of a PA murine model and confirmed their altered expression. Our novel results show that PA iPSC-cardiomyocytes represent a promising model for investigating the pathological mechanisms underlying PA cardiomyopathies, also serving as an ex vivo platform for therapeutic evaluation.

Induced pluripotent stem cells as a disease model for studying inherited arrhythmias: promises and hurdles

2012 ◽  
Vol 9 (4) ◽  
pp. e199-e207 ◽  
Author(s):  
Kathy O. Lui ◽  
Maxine W. Stachel ◽  
Deborah K. Lieu ◽  
Ronald A. Li ◽  
Lei Bu
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Disease Model ◽  
Induced Pluripotent ◽  
Inherited Arrhythmias

scholarly journals Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

2017 ◽  
Vol 25 ◽  
pp. 1-5 ◽  
Author(s):  
Bernd Kuebler ◽  
Begoña Aran ◽  
Laia Miquel-Serra ◽  
Yolanda Muñoz ◽  
Elisabet Ars ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Induced Pluripotent
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