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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

Authors :
Sarah, de Jong
Louet, Koolen
Irene, Vázquez-Domínguez
Anita, de Breuk
Silvia, Albert
Carel B, Hoyng
Suresh, Katti
Anneke I, den Hollander
Alejandro, Garanto
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 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.

Details

ISSN :
18735061
Database :
OpenAIRE
Journal :
Stem Cell Research, 62
Accession number :
edsair.doi.dedup.....74191d091d05054bf5e873cb1f6f27bf