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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

Authors :
Jong, S. de
Koolen, L.C.A.
Vazquez Dominguez, I.
Breuk, A. de
Albert, S.
Hoyng, C.B.
Katti, S.
Hollander, A.I. den
Garanto, A.
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.

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