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.
In: Stem Cell Research, Jg. 62 (2022-07-01), S. N.PAG
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Zugriff:
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. [ABSTRACT FROM AUTHOR]
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Titel: |
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.
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Autor/in / Beteiligte Person: | de Jong, Sarah ; Koolen, Louet ; Vázquez-Domínguez, Irene ; de Breuk, Anita ; Albert, Silvia ; Hoyng, Carel B. ; Katti, Suresh ; den Hollander, Anneke I. ; Garanto, Alejandro |
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Zeitschrift: | Stem Cell Research, Jg. 62 (2022-07-01), S. N.PAG |
Veröffentlichung: | 2022 |
Medientyp: | academicJournal |
ISSN: | 1873-5061 (print) |
DOI: | 10.1016/j.scr.2022.102796 |
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