Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system
Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids. NPC1-patients present variable multisystemic symptoms, including neurol...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120303573 |
| _version_ | 1819143130662830080 |
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| author | Christin Völkner Maik Liedtke Janine Petters Katharina Huth Gudrun Knuebel Hugo Murua Escobar Jörn Bullerdiek Jan Lukas Andreas Hermann Moritz J. Frech |
| author_facet | Christin Völkner Maik Liedtke Janine Petters Katharina Huth Gudrun Knuebel Hugo Murua Escobar Jörn Bullerdiek Jan Lukas Andreas Hermann Moritz J. Frech |
| author_sort | Christin Völkner |
| collection | DOAJ |
| description | Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids. NPC1-patients present variable multisystemic symptoms, including neurological deficits. Here, we describe the generation of human iPSC lines obtained from fibroblasts of a male individual, carrying the homozygous mutation p.I1061T, and an unrelated and healthy male individual. A non-integrating Sendai virus system, containing KLF4, OCT3/4, SOX2 and C-MYC, was used for reprogramming. These cell lines provide a valuable resource for studying the pathophysiology of multisystemic NPC1-disease. |
| first_indexed | 2024-12-22T12:21:21Z |
| format | Article |
| id | doaj.art-d99d3150ea374e94995b0502099a7fdc |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-22T12:21:21Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-d99d3150ea374e94995b0502099a7fdc2022-12-21T18:25:57ZengElsevierStem Cell Research1873-50612020-12-0149102056Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus systemChristin Völkner0Maik Liedtke1Janine Petters2Katharina Huth3Gudrun Knuebel4Hugo Murua Escobar5Jörn Bullerdiek6Jan Lukas7Andreas Hermann8Moritz J. Frech9Translational 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, GermanyTranslational 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, GermanyInstitute for Medical Genetics, University Medical Center Rostock, 18057 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, 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; German Center for Neurodegenerative Diseases (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.Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids. NPC1-patients present variable multisystemic symptoms, including neurological deficits. Here, we describe the generation of human iPSC lines obtained from fibroblasts of a male individual, carrying the homozygous mutation p.I1061T, and an unrelated and healthy male individual. A non-integrating Sendai virus system, containing KLF4, OCT3/4, SOX2 and C-MYC, was used for reprogramming. These cell lines provide a valuable resource for studying the pathophysiology of multisystemic NPC1-disease.http://www.sciencedirect.com/science/article/pii/S1873506120303573 |
| spellingShingle | Christin Völkner Maik Liedtke Janine Petters Katharina Huth Gudrun Knuebel Hugo Murua Escobar Jörn Bullerdiek Jan Lukas Andreas Hermann Moritz J. Frech Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system Stem Cell Research |
| title | Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system |
| title_full | Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system |
| title_fullStr | Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system |
| title_full_unstemmed | Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system |
| title_short | Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system |
| title_sort | generation of an ipsc line akosi006 a from fibroblasts of an npc1 patient carrying the homozygous mutation p i1061t c 3182 t c and a control ipsc line akosi007 a using a non integrating sendai virus system |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120303573 |
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