Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line
Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-09-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001745 |
| _version_ | 1827824170127327232 |
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| author | Niels Pietsch Jiancheng Cheng Antonietta Fazio Leonie Ewald Erda Alizoti Elisabeth Krämer Ellen Orthey Lucie Carrier Sonia R Singh |
| author_facet | Niels Pietsch Jiancheng Cheng Antonietta Fazio Leonie Ewald Erda Alizoti Elisabeth Krämer Ellen Orthey Lucie Carrier Sonia R Singh |
| author_sort | Niels Pietsch |
| collection | DOAJ |
| description | Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CRYABhom hiPSC-derived cardiomyocytes developed intracellular CRYAB aggregates, which is a hallmark of DRM. This newly created mutant can be utilized to study DRM and cardiac proteinopathy in a human context. |
| first_indexed | 2024-03-12T02:22:08Z |
| format | Article |
| id | doaj.art-690b5a4cbefd4b42b1db8d1852a43c94 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-12T02:22:08Z |
| publishDate | 2023-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-690b5a4cbefd4b42b1db8d1852a43c942023-09-06T04:50:57ZengElsevierStem Cell Research1873-50612023-09-0171103188Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC lineNiels Pietsch0Jiancheng Cheng1Antonietta Fazio2Leonie Ewald3Erda Alizoti4Elisabeth Krämer5Ellen Orthey6Lucie Carrier7Sonia R Singh8Institute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, ItalyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Hamburg, GermanyInstitute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Hamburg, Germany; Corresponding author at: Institute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mice, into a donor human induced pluripotent stem cell (hiPSC) line. Control and mutant hiPSCs were tested for karyotype integrity and pluripotency marker expression. HiPSCs could be differentiated into endoderm, ectoderm and cardiomyocytes as a mesodermal derivative in vitro. CRYABhom hiPSC-derived cardiomyocytes developed intracellular CRYAB aggregates, which is a hallmark of DRM. This newly created mutant can be utilized to study DRM and cardiac proteinopathy in a human context.http://www.sciencedirect.com/science/article/pii/S1873506123001745 |
| spellingShingle | Niels Pietsch Jiancheng Cheng Antonietta Fazio Leonie Ewald Erda Alizoti Elisabeth Krämer Ellen Orthey Lucie Carrier Sonia R Singh Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line Stem Cell Research |
| title | Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line |
| title_full | Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line |
| title_fullStr | Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line |
| title_full_unstemmed | Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line |
| title_short | Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line |
| title_sort | generation of a homozygous cryab p arg120gly mutant ukei001 a 1 from a human ipsc line |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123001745 |
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