Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5)
Copyright © 2016 Helmholtz Zentrum München. Published by Elsevier B.V. All rights reserved..
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-R486C was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG5-R486C line may be a useful resource for disease modelling of SPG5.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:17 |
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| Enthalten in: |
Stem cell research - 17(2016), 2 vom: 23. Sept., Seite 422-425 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Höflinger, Philip [VerfasserIn] |
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| Links: |
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| Themen: |
CYP7B1 protein, human |
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| Anmerkungen: |
Date Completed 22.11.2017 Date Revised 21.03.2019 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.scr.2016.09.013 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a Copyright © 2016 Helmholtz Zentrum München. Published by Elsevier B.V. All rights reserved. | ||
| 520 | |a Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-R486C was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG5-R486C line may be a useful resource for disease modelling of SPG5 | ||
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