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