Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation
Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved..
Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.4):c.130-1G>C were reprogrammed into induced pluripotent stem cell (iPSC) lines (LIBUCi001-A and LIBUCi002-A) using non-integrative Sendai virus. Additionally, a third DNAJC19tv (truncation variant) iPSC line (JMUi001-A-1) was generated by CRISPR/Cas9 in healthy control iPSCs (JMUi001-A). All three DCMA iPSC lines present normal karyotypes, high expression of pluripotency markers and the capacity to differentiate into cells of all three germ layers.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:46 |
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| Enthalten in: |
Stem cell research - 46(2020) vom: 19. Juli, Seite 101856 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Janz, Anna [VerfasserIn] |
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Date Completed 21.06.2021 Date Revised 21.06.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.scr.2020.101856 |
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| 245 | 1 | 0 | |a Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation |
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| 520 | |a Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved. | ||
| 520 | |a Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.4):c.130-1G>C were reprogrammed into induced pluripotent stem cell (iPSC) lines (LIBUCi001-A and LIBUCi002-A) using non-integrative Sendai virus. Additionally, a third DNAJC19tv (truncation variant) iPSC line (JMUi001-A-1) was generated by CRISPR/Cas9 in healthy control iPSCs (JMUi001-A). All three DCMA iPSC lines present normal karyotypes, high expression of pluripotency markers and the capacity to differentiate into cells of all three germ layers | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 700 | 1 | |a Chen, Ruping |e verfasserin |4 aut | |
| 700 | 1 | |a Regensburger, Martina |e verfasserin |4 aut | |
| 700 | 1 | |a Ueda, Yuichiro |e verfasserin |4 aut | |
| 700 | 1 | |a Rost, Simone |e verfasserin |4 aut | |
| 700 | 1 | |a Klopocki, Eva |e verfasserin |4 aut | |
| 700 | 1 | |a Günther, Katharina |e verfasserin |4 aut | |
| 700 | 1 | |a Edenhofer, Frank |e verfasserin |4 aut | |
| 700 | 1 | |a Duff, Henry J |e verfasserin |4 aut | |
| 700 | 1 | |a Ergün, Süleyman |e verfasserin |4 aut | |
| 700 | 1 | |a Gerull, Brenda |e verfasserin |4 aut | |
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