Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare childhood onset neurodegenerative disease caused by mutations in the FA2H gene. Patients display abnormal myelination, cerebellar atrophy and some have iron deposition in the central nervous system. Here we describe the generation...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002124 |
| _version_ | 1818537440799883264 |
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| author | Fatima Efendic Christin Völkner Saskia Krohn Hugo Murua Escobar Sunita Venkateswaran Steffany Bennett Andreas Hermann Moritz J. Frech |
| author_facet | Fatima Efendic Christin Völkner Saskia Krohn Hugo Murua Escobar Sunita Venkateswaran Steffany Bennett Andreas Hermann Moritz J. Frech |
| author_sort | Fatima Efendic |
| collection | DOAJ |
| description | Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare childhood onset neurodegenerative disease caused by mutations in the FA2H gene. Patients display abnormal myelination, cerebellar atrophy and some have iron deposition in the central nervous system. Here we describe the generation of AKOSi010-A, a human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a female patient carrying the compound heterozygous p.Gly45Arg/p.His319Arg, using non-integrating Sendai virus. The generated iPSCs express pluripotency markers, can differentiate into cell types of the three germ layers and show a normal karyotype. This cell line displays a unique source to study the pathophysiology of FAHN. |
| first_indexed | 2024-12-11T18:50:46Z |
| format | Article |
| id | doaj.art-aab543386ef64e7b8f4316cf757dbd93 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-11T18:50:46Z |
| publishDate | 2022-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-aab543386ef64e7b8f4316cf757dbd932022-12-22T00:54:18ZengElsevierStem Cell Research1873-50612022-08-0163102863Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319ArgFatima Efendic0Christin Völkner1Saskia Krohn2Hugo Murua Escobar3Sunita Venkateswaran4Steffany Bennett5Andreas Hermann6Moritz J. Frech7Translational Neurodegeneration Section “Albrecht Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyTranslational Neurodegeneration Section “Albrecht Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, GermanyDepartment of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, GermanyDepartment of Medicine, Clinic III – Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, GermanyDivision of Pediatric Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ontario, Ottawa, ON K1H 8L1, CanadaNeural Regeneration Laboratory, Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, CanadaTranslational Neurodegeneration Section “Albrecht Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald, 18147 Rostock, GermanyTranslational Neurodegeneration Section “Albrecht Kossel”, Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany; Corresponding author.Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare childhood onset neurodegenerative disease caused by mutations in the FA2H gene. Patients display abnormal myelination, cerebellar atrophy and some have iron deposition in the central nervous system. Here we describe the generation of AKOSi010-A, a human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a female patient carrying the compound heterozygous p.Gly45Arg/p.His319Arg, using non-integrating Sendai virus. The generated iPSCs express pluripotency markers, can differentiate into cell types of the three germ layers and show a normal karyotype. This cell line displays a unique source to study the pathophysiology of FAHN.http://www.sciencedirect.com/science/article/pii/S1873506122002124 |
| spellingShingle | Fatima Efendic Christin Völkner Saskia Krohn Hugo Murua Escobar Sunita Venkateswaran Steffany Bennett Andreas Hermann Moritz J. Frech Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg Stem Cell Research |
| title | Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg |
| title_full | Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg |
| title_fullStr | Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg |
| title_full_unstemmed | Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg |
| title_short | Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg |
| title_sort | generation of the human ipsc line akosi010 a from fibroblasts of a female fahn patient carrying the compound heterozygous mutation p gly45arg p his319arg |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002124 |
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