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
In: Stem Cell Research, 62; (2022)
Online
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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 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.
| Titel: |
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
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| Autor/in / Beteiligte Person: | Sarah, de Jong ; Louet, Koolen ; Irene, Vázquez-Domínguez ; Anita, de Breuk ; Silvia, Albert ; Carel B, Hoyng ; Suresh, Katti ; Anneke I, den Hollander ; Alejandro, Garanto |
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| Quelle: | Stem Cell Research, 62; (2022) |
| Veröffentlichung: | 2022 |
| Medientyp: | unknown |
| ISSN: | 1873-5061 (print) |
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