Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved..
Age-related macular degeneration (AMD) is a common eye disease among the elderly in the Western world. AMD is a multifactorial disease, with a strong association with genetic variation in the complement system. One of the AMD-associated variants is the c.355G>A (p.Gly119Arg) variant in complement factor I (CFI), a central regulator of complement activation. Here, we report the generation of an iPSC line and its isogenic wildtype control derived from peripheral blood mononuclear cells of a male AMD-affected individual carrying the heterozygous variant c.355G>A (p.Gly119Arg). The line can be utilized to study the effects of this variant in disease-specific cell types.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:62 |
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| Enthalten in: |
Stem cell research - 62(2022) vom: 02. Juli, Seite 102797 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
de Jong, Sarah [VerfasserIn] |
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| Links: |
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| Themen: |
Complement Factor I |
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| Anmerkungen: |
Date Completed 02.04.2023 Date Revised 02.04.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.scr.2022.102797 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM340548657 |
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| 245 | 1 | 0 | |a Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene |
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| 520 | |a Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved. | ||
| 520 | |a Age-related macular degeneration (AMD) is a common eye disease among the elderly in the Western world. AMD is a multifactorial disease, with a strong association with genetic variation in the complement system. One of the AMD-associated variants is the c.355G>A (p.Gly119Arg) variant in complement factor I (CFI), a central regulator of complement activation. Here, we report the generation of an iPSC line and its isogenic wildtype control derived from peripheral blood mononuclear cells of a male AMD-affected individual carrying the heterozygous variant c.355G>A (p.Gly119Arg). The line can be utilized to study the effects of this variant in disease-specific cell types | ||
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| 700 | 1 | |a Vázquez-Domínguez, Irene |e verfasserin |4 aut | |
| 700 | 1 | |a de Breuk, Anita |e verfasserin |4 aut | |
| 700 | 1 | |a Albert, Silvia |e verfasserin |4 aut | |
| 700 | 1 | |a Hoyng, Carel B |e verfasserin |4 aut | |
| 700 | 1 | |a Katti, Suresh |e verfasserin |4 aut | |
| 700 | 1 | |a den Hollander, Anneke I |e verfasserin |4 aut | |
| 700 | 1 | |a Garanto, Alejandro |e verfasserin |4 aut | |
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