Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1
Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be elucidated. We reprogrammed fibroblasts of a...
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Elsevier
2019-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119300583 |
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doaj-d89b6393acfd4ee7a9c02a269fa49ece2020-11-25T00:29:05ZengElsevierStem Cell Research1873-50612019-05-0137Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1Dominic Lenz0Christian Staufner1Selina Wächter2Maike Hagedorn3Juliane Ebersold4Gudrun Göhring5Stefan Kölker6Georg F. Hoffmann7Sabine Jung-Klawitter8Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, GermanyCentre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, GermanyCentre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, GermanyDepartment of Human Genetics, Hannover Medical School (MHH), Hannover, GermanyDepartment of Human Genetics, Hannover Medical School (MHH), Hannover, GermanyDepartment of Human Genetics, Hannover Medical School (MHH), Hannover, GermanyCentre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, GermanyCentre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, GermanyCentre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany; Corresponding author.Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be elucidated. We reprogrammed fibroblasts of a 2 years old male patient with CALFAN Syndrome due to a homozygous nonsense variant in SCYL1 (c.[1882C > T]; c.[1882C > T]/p.[Gln628*]; p.[Gln628*]) and generated DHMCi005-A using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Cells showed a normal karyotype. Pluripotency was proven using immunohistochemistry, RT-PCR, and flow cytometry. Differentiation into all germ layers was shown using the STEMdiff™ Trilineage Differentiation Kit (Stemcell Technologies).http://www.sciencedirect.com/science/article/pii/S1873506119300583 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Dominic Lenz Christian Staufner Selina Wächter Maike Hagedorn Juliane Ebersold Gudrun Göhring Stefan Kölker Georg F. Hoffmann Sabine Jung-Klawitter |
| spellingShingle |
Dominic Lenz Christian Staufner Selina Wächter Maike Hagedorn Juliane Ebersold Gudrun Göhring Stefan Kölker Georg F. Hoffmann Sabine Jung-Klawitter Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 Stem Cell Research |
| author_facet |
Dominic Lenz Christian Staufner Selina Wächter Maike Hagedorn Juliane Ebersold Gudrun Göhring Stefan Kölker Georg F. Hoffmann Sabine Jung-Klawitter |
| author_sort |
Dominic Lenz |
| title |
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 |
| title_short |
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 |
| title_full |
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 |
| title_fullStr |
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 |
| title_full_unstemmed |
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 |
| title_sort |
generation of an induced pluripotent stem cell (ipsc) line, dhmci005-a, from a patient with calfan syndrome due to mutations in scyl1 |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 |
| publishDate |
2019-05-01 |
| description |
Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be elucidated. We reprogrammed fibroblasts of a 2 years old male patient with CALFAN Syndrome due to a homozygous nonsense variant in SCYL1 (c.[1882C > T]; c.[1882C > T]/p.[Gln628*]; p.[Gln628*]) and generated DHMCi005-A using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Cells showed a normal karyotype. Pluripotency was proven using immunohistochemistry, RT-PCR, and flow cytometry. Differentiation into all germ layers was shown using the STEMdiff™ Trilineage Differentiation Kit (Stemcell Technologies). |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506119300583 |
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