Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin
Truncating variants in TTN (TTNtv) are present in 15–25 % of patients with idiopathic dilated cardiomyopathy. Interestingly, the pathogenicity of TTNtv seems to be linked to their location within the gene. More proximal I-band TTNtv (TTNtvI) harbour less pathogenic potential than distant A-band TTNt...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002344 |
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| author | Hanne M. Boen Bert Vandendriessche Jolien Schippers Laura Rabaut Aleksandra Nijak-Paeske Peter Ponsaerts Emeline M. Van Craenenbroeck Bart Loeys Maaike Alaerts |
| author_facet | Hanne M. Boen Bert Vandendriessche Jolien Schippers Laura Rabaut Aleksandra Nijak-Paeske Peter Ponsaerts Emeline M. Van Craenenbroeck Bart Loeys Maaike Alaerts |
| author_sort | Hanne M. Boen |
| collection | DOAJ |
| description | Truncating variants in TTN (TTNtv) are present in 15–25 % of patients with idiopathic dilated cardiomyopathy. Interestingly, the pathogenicity of TTNtv seems to be linked to their location within the gene. More proximal I-band TTNtv (TTNtvI) harbour less pathogenic potential than distant A-band TTNtv (TTNtvA). We created isogenic human induced pluripotent stem cell lines (hiPSC) with TTNtvI and TTNtvA using CRISPR/Cas9, for the investigation of the pathomechanism in hiPSC-derived cardiomyocytes (hiPSC-CMs). Exon 48 (E48), located in the I-band, and exon 357 (E357), located in the A-band were targeted. |
| format | Article |
| id | doaj-art-c3299bc2be0e424f95b05a7926882f59 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-c3299bc2be0e424f95b05a7926882f592025-08-20T02:38:11ZengElsevierStem Cell Research1873-50612024-12-018110353610.1016/j.scr.2024.103536Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titinHanne M. Boen0Bert Vandendriessche1Jolien Schippers2Laura Rabaut3Aleksandra Nijak-Paeske4Peter Ponsaerts5Emeline M. Van Craenenbroeck6Bart Loeys7Maaike Alaerts8University of Antwerp and Antwerp University Hospital, GENCOR, Cardiovascular Research, Belgium; University of Antwerp, GENCOR, Center of Medical Genetics, Belgium; Corresponding author.University of Antwerp, GENCOR, Center of Medical Genetics, BelgiumUniversity of Antwerp, GENCOR, Center of Medical Genetics, BelgiumUniversity of Antwerp, GENCOR, Center of Medical Genetics, BelgiumUniversity of Antwerp, GENCOR, Center of Medical Genetics, BelgiumUniversity of Antwerp, Vaccine and Infectious Disease Institute, BelgiumUniversity of Antwerp and Antwerp University Hospital, GENCOR, Cardiovascular Research, BelgiumUniversity of Antwerp, GENCOR, Center of Medical Genetics, BelgiumUniversity of Antwerp, GENCOR, Center of Medical Genetics, BelgiumTruncating variants in TTN (TTNtv) are present in 15–25 % of patients with idiopathic dilated cardiomyopathy. Interestingly, the pathogenicity of TTNtv seems to be linked to their location within the gene. More proximal I-band TTNtv (TTNtvI) harbour less pathogenic potential than distant A-band TTNtv (TTNtvA). We created isogenic human induced pluripotent stem cell lines (hiPSC) with TTNtvI and TTNtvA using CRISPR/Cas9, for the investigation of the pathomechanism in hiPSC-derived cardiomyocytes (hiPSC-CMs). Exon 48 (E48), located in the I-band, and exon 357 (E357), located in the A-band were targeted.http://www.sciencedirect.com/science/article/pii/S1873506124002344 |
| spellingShingle | Hanne M. Boen Bert Vandendriessche Jolien Schippers Laura Rabaut Aleksandra Nijak-Paeske Peter Ponsaerts Emeline M. Van Craenenbroeck Bart Loeys Maaike Alaerts Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin Stem Cell Research |
| title | Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin |
| title_full | Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin |
| title_fullStr | Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin |
| title_full_unstemmed | Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin |
| title_short | Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin |
| title_sort | generation of four distinct isogenic cell lines with truncating variants in i band or a band titin |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002344 |
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