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
Summary
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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Jul;62:102797 |
| PubMed | 35526386 |
| DOI | 10.1016/j.scr.2022.102797 |