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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; 1873-5061; 62; 102796; ~Stem Cell Research~~~~~1873-5061~~62~~102796
- Publication Year :
- 2022
-
Abstract
- Item does not contain fulltext<br />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.
Details
- Database :
- OAIster
- Journal :
- Stem Cell Research; 1873-5061; 62; 102796; ~Stem Cell Research~~~~~1873-5061~~62~~102796
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1367186042
- Document Type :
- Electronic Resource