Generation of two isogenic-corrected control cell lines (IRMBi001-A-1; IRMBi001-A-2) from Autosomal dominant Alzheimer’s disease patient-derived iPSCs carrying a G217D mutation in presenilin 1 gene

Generation of two isogenic-corrected control cell lines (IRMBi001-A-1; IRMBi001-A-2) from Autosomal dominant Alzheimer’s disease patient-derived iPSCs carrying a G217D mutation in presenilin 1 gene

Mutations in the preselinin1 (PSEN1) gene are responsible for rare autosomic dominant Alzheimer’s disease (ADAD). We generated isogenic control cell lines from iPS cell line derived from ADAD patient carrying a G217D mutation in PSEN1 gene, with CRISPR Cas9 technology. The edited cell lines present...

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Main Authors: Coralie Clua Provost, Louise Greetham, Cécile Monzo, Arnaud Monteil, Anne Rovelet-Lecrux, Sylvain Lehmann, David Wallon, Valentin Garcia, Hélène Hirbec, Emmanuel Nivet, Carole Crozet
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125001308
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Summary:Mutations in the preselinin1 (PSEN1) gene are responsible for rare autosomic dominant Alzheimer’s disease (ADAD). We generated isogenic control cell lines from iPS cell line derived from ADAD patient carrying a G217D mutation in PSEN1 gene, with CRISPR Cas9 technology. The edited cell lines present the correction of the c.650G > A mutation, no chromosomal abnormalities and no evidence of off-target event. The IRMBi001-A-1 and IRMBi001-A-2 cell lines exhibit pluripotency markers expression and the ability to differentiate into the three germ layers. These two isogenic controls will be used as control to study the pathomechanistic of ADAD through various in vitro assays.
ISSN:1873-5061

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