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

Nahon, D.M.; Ganesh, S.; Hil, F.E. van den; Freund, C.; Mummery, C.L.; Orlova, V.V. (2023)

Article / Letter to editor

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. CRISPRCas9 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.

• All authors: Nahon, D.M.; Ganesh, S.; Hil, F.E. van den; Freund, C.; Mummery, C.L.; Orlova, V.V.
• Date: 2023-08-19
• Journal: Stem Cell Research
• Volume: 71
• DOI: doi:10.1016/j.scr.2023.103180
• Link: https://www.sciencedirect.com/science/article/pii/S1873506123001666?via%...