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


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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Nahon DM, Ganesh S, van den Hil FE, Freund C, Mummery CL, Orlova VV
Journal Stem cell research
Publication Date 2023 Sep;71:103180
PubMed 37603921
DOI 10.1016/j.scr.2023.103180

Research Projects

Cell Lines