Chemla, Axel Arena, Giuseppe Saraiva, Claudia Berenguer-Escuder, Clara Grossmann, Dajana Grünewald, Anne Klein, Christine Seibler, Philip Schwamborn, Jens C. Krüger, Rejko
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Stem Cell Research
Primary skin fibroblasts from two Parkinson’s disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogramming. The corresponding isogenic gene-corrected lines have ...
Alkobtawi, Mansour Pla, Patrick Onteniente, Brigitte Seal, Subham Pingault, Véronique Marlin, Sandrine Monsoro-Burq, Anne H
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Stem cell research
Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two induced pluripotent stem cell lines (PCli029-A and PCli031-A) from two patients from the same f...
De Kinderen, Pauline Rabaut, Laura Perik, Melanie H.A.M. Peeters, Silke Ponsaerts, Peter Loeys, Bart Mortier, Geert Meester, Josephina A.N. Verstraeten, Aline
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Stem Cell Research
Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short stature, degenerative joint disease, hearing impairment, orofacial anomalies and ocular manifestations. To ...
De Kinderen, Pauline Peeters, Silke Rabaut, Laura Mortier, Geert Ponsaerts, Peter Loeys, Bart Verstraeten, Aline Meester, Josephina A.N.
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Stem Cell Research
Hemizygous missense variants in the X-linked BGN gene, encoding the extracellular matrix protein biglycan, cause spondyloepimetaphyseal dysplasia (SEMD, biglycan type), which is clinically characterized by short stature, brachydactyly and osteoarthritis. Little is known about the pathomechanisms underlying SEMD, biglycan type. IPSC-derived chondroc...
Rabino, Martina Rurali, Erica Zamboni, Chiara Rovina, Davide Mallia, Sara Cauteruccio, Matteo Baggiano, Andrea Giacari, Carlo Maria Bellin, Milena Pompilio, Giulio
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Stem Cell Research
Coronavirus disease (COVID-19) is an infectious disease caused by SARS-CoV-2 virus, leading to mild to severe respiratory symptoms. Cardiovascular involvement is frequent and mainly manifests with myocarditis, arrhythmias, cardiac arrests, heart failure and coagulation abnormality. We generated human induced pluripotent stem cells (hiPSCs) from fou...
Domdey, M. Kluth, M.A. Maßlo, C. Ganss, C. Frank, M.H. Frank, N.Y. Coroneo, M.T. Cursiefen, C. Notara, M.
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Stem Cell Research
Pterygium pathogenesis is often attributed to a population of altered limbal stem cells, which initiate corneal invasion and drive the hyperproliferation and fibrosis associated with the disease. These cells are thought to undergo epithelial to mesenchymal transition (EMT) and to contribute to subepithelial stromal fibrosis. In this study, the pres...
Philip Creamer, J. Luff, Stephanie A. Yu, Hao Sturgeon, Christopher M.
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Stem Cell Research
To achieve efficient, reproducible differentiation of human pluripotent stem cells (hPSCs) towards specific hematopoietic cell-types, a comprehensive understanding of the necessary cell signaling and developmental trajectories involved is required. Previous studies have identified the mesodermal progenitors of extra-embryonic-like and intra-embryon...
Simons, Eline Nijak, Aleksandra Loeys, Bart Alaerts, Maaike
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Stem cell research
Brugada syndrome (BrS) is an inherited primary electrical disorder of the heart. 25% of BrS patients carry a mutation in the SCN5A gene, encoding the cardiac specific voltage-gated sodium channel Nav1.5. Here we report two iPSC lines (BBANTWi006-A, BBANTWi007-A) of a brother and a sister carrying an SCN5A mutation (c.4813 + 3_4813 + 6dupGGGT) causi...
Romano, Elena Trionfini, Piera Giampietro, Roberta Benigni, Ariela Tomasoni, Susanna
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Stem cell research
Human induced pluripotent stem cells (iPSCs) have great promise in regenerative medicine. However, several limitations, including immune-incompatibility, have raised concerns regarding their clinical application. Recent studies have shown that human iPSCs and their derivatives lose their immunogenicity when major histocompatibility complex (MHC) cl...
Li, Xiajun Li, Albert Jiarui Du, Bin
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Stem Cell Research
