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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.
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; 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