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Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
- Source :
- Stem Cell Research, 62
- Publication Year :
- 2022
-
Abstract
- 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 female AMD-affected individual carrying the heterozygous variant c.355G>A (p.Gly119Arg). This line can be utilized to study the effects of this variant in disease-specific cell types.
- Subjects :
- Induced Pluripotent Stem Cells
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Cell Biology
General Medicine
Aminopeptidases
Polymorphism, Single Nucleotide
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Macular Degeneration
All institutes and research themes of the Radboud University Medical Center
Complement Factor I
Leukocytes, Mononuclear
Humans
Female
Developmental Biology
Aged
Subjects
Details
- ISSN :
- 18735061
- Volume :
- 62
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....2453846fb2750e0393e1c031901f47c3
- Full Text :
- https://doi.org/10.1016/j.scr.2022.102796