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Updated: Jun 27, 2025

Establishment of Genome-edited Human Pluripotent Stem Cell Lines: From Targeting to Isolation
Published on: February 2, 2016
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with
Wardiya Afshar-Saber1, Cidi Chen2, Nicole A Teaney1
1FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Abstract:
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced pluripotent stem cells (hiPSCs) derived from fibroblasts of three unrelated SSADHD patients - one female and two males with the CRISPR-corrected isogenic controls. These individuals are clinically diagnosed and are being followed in a longitudinal clinical study.
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