Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy
Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the filamin C (FLNC)-gene, via lentiviral expression...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001964 |
| _version_ | 1797642560412319744 |
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| author | N.M. Daya L. Mavrommatis H. Zhuge M. Athamneh A. Roos D. Gläser K. Doering H. Zaehres M. Vorgerd A.K. Güttsches |
| author_facet | N.M. Daya L. Mavrommatis H. Zhuge M. Athamneh A. Roos D. Gläser K. Doering H. Zaehres M. Vorgerd A.K. Güttsches |
| author_sort | N.M. Daya |
| collection | DOAJ |
| description | Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the filamin C (FLNC)-gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi001-A displays typical embryonic stem cell-like morphology, carries the c.4984C > T FLNC gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and holds the potential to differentiate in all three germ layers. We postulate that HIMRi001-A can be used for the elucidation of FLNC-associated pathomechanisms and for developing new therapeutic options. |
| first_indexed | 2024-03-11T14:01:57Z |
| format | Article |
| id | doaj.art-3b57801c3a464179b9c92a7b59af4005 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-11T14:01:57Z |
| publishDate | 2023-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3b57801c3a464179b9c92a7b59af40052023-11-02T04:13:30ZengElsevierStem Cell Research1873-50612023-10-0172103210Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathyN.M. Daya0L. Mavrommatis1H. Zhuge2M. Athamneh3A. Roos4D. Gläser5K. Doering6H. Zaehres7M. Vorgerd8A.K. Güttsches9Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, GermanyDepartment of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, GermanyDepartment of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, GermanyDepartment of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, GermanyDepartment of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, GermanyGenetikum, Center for Human Genetics, 89231 Neu-Ulm, GermanyDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, GermanyDepartment of Anatomy and Molecular Embryology, Institute of Anatomy, Ruhr-University Bochum, 44801 Bochum, GermanyDepartment of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, GermanyDepartment of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany; Corresponding author.Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the filamin C (FLNC)-gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi001-A displays typical embryonic stem cell-like morphology, carries the c.4984C > T FLNC gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and holds the potential to differentiate in all three germ layers. We postulate that HIMRi001-A can be used for the elucidation of FLNC-associated pathomechanisms and for developing new therapeutic options.http://www.sciencedirect.com/science/article/pii/S1873506123001964 |
| spellingShingle | N.M. Daya L. Mavrommatis H. Zhuge M. Athamneh A. Roos D. Gläser K. Doering H. Zaehres M. Vorgerd A.K. Güttsches Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy Stem Cell Research |
| title | Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy |
| title_full | Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy |
| title_fullStr | Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy |
| title_full_unstemmed | Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy |
| title_short | Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy |
| title_sort | generation of a human ipsc line himri001 a from a patient with filaminopathy |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123001964 |
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