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. 2024 Sep:79:103495.
doi: 10.1016/j.scr.2024.103495. Epub 2024 Jul 29.

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation

Damián Hernández  1 , Stephanie Morgan Schlicht  1 , Jordan Elli Clarke  1 , Maciej Daniszewski  1 , Celeste M Karch  2 ; Dominantly Inherited Alzheimer Network (DIAN); Alison M Goate  3 , Alice Pébay  4
Collaborators, Affiliations

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation

Damián Hernández et al. Stem Cell Res. 2024 Sep.

Abstract

We report the generation of a gene-edited human induced pluripotent stem cell (iPSC) line from an Alzheimer's disease patient-derived iPSC line harbouring the PSEN1 H163R mutation. This line demonstrates pluripotent stem cell morphology, expression of pluripotency markers, and maintains a normal karyotype.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1.
Fig. 1.
Generation and characterization of UOMELBi004-A.
See this image and copyright information in PMC

References

    1. Boteva K, Vitek M, Mitsuda H, de Silva H, Xu PT, Small G, Gilbert JR, 1996. Mutation analysis of presenillin 1 gene in Alzheimer’s disease. Lancet 347. 10.1016/s0140-6736(96)90261-5. - DOI - PubMed
    1. Doench JG, Fusi N, Sullender M, Hegde M, Vaimberg EW, Donovan KF, Smith I, Tothova Z, Wilen C, Orchard R, Virgin HW, Listgarten J, Root DE, 2016. Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9. Nat. Biotechnol. 34, 184–191. - PMC - PubMed
    1. Hsu PD, Scott DA, Weinstein JA, Ran FA, Konermann S, Agarwala V, Li Y, Fine EJ, Wu X, Shalem O, Cradick TJ, Marraffini LA, Bao G, Zhang F, 2013. DNA targeting specificity of RNA-guided Cas9 nucleases. Nat. Biotechnol. 31, 827–832. - PMC - PubMed
    1. Karch CM, Hernández D, Wang J-C, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ, Pébay A, Goate AM, 2018. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimers. Res. Ther. 10, 1–11. - PMC - PubMed
    1. Ran FA, Hsu PD, Wright J, Agarwala V, Scott DA, Zhang F, 2013. Genome engineering using the CRISPR-Cas9 system. Nat. Protoc. 8, 2281–2308. - PMC - PubMed

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