Genetic repair of a human induced pluripotent cell line from patient with Dutch-type cerebral amyloid angiopathy.

Autor:	Nahon DM; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands., Ganesh S; Leiden University Medical Center hiPSC Hotel, Leiden 2333ZA, The Netherlands., van den Hil FE; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands., Freund C; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands; Leiden University Medical Center hiPSC Hotel, Leiden 2333ZA, The Netherlands., Mummery CL; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands., Orlova VV; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands. Electronic address: v.orlova@lumc.nl.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103180. Date of Electronic Publication: 2023 Aug 11.
DOI:	10.1016/j.scr.2023.103180
Abstrakt:	Dutch-type cerebral amyloid angiopathy (D-CAA), also known as hereditary cerebral haemorrhage with amyloidosis-Dutch type (HCHWA-D), is an autosomal dominant disorder caused by a G to C transversion in codon 693 of the amyloid precursor protein (APP) that results in a Gln-to-Glu amino acid substitution. CRISPR-Cas9 editing was used for genetic correction of the mutation in a human induced pluripotent stem cell (hiPSC-) line established previously. The isogenic hiPSCs generated showed typical pluripotent stem cell morphology, expressed all markers of undifferentiated state, displayed a normal karyotype and had the capacity to differentiate into the three germ layers. Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Christine L. Mummery is co-founder of Pluriomics bv (now Ncardia bv). (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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