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Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls.
Afshar-Saber, Wardiya; Chen, Cidi; Teaney, Nicole A; Kim, Kristina; Yang, Ziqin; Gasparoli, Federico M; Ebrahimi-Fakhari, Darius; Buttermore, Elizabeth D; Pin-Fang Chen, Ivy; Pearl, Phillip L; Sahin, Mustafa.
Affiliation
  • Afshar-Saber W; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: wardiya.afsharsaber@childrens.harvard.edu.
  • Chen C; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
  • Teaney NA; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kim K; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
  • Yang Z; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Gasparoli FM; Department of Cell Biology, Harvard Medical School, Boston, MA, USA.
  • Ebrahimi-Fakhari D; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Buttermore ED; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
  • Pin-Fang Chen I; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
  • Pearl PL; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Sahin M; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: mustafa.sahin@childrens.harvard.edu.
Stem Cell Res ; 77: 103424, 2024 Jun.
Article in En | MEDLINE | ID: mdl-38677032
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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Full text: 1 Database: MEDLINE Main subject: Succinate-Semialdehyde Dehydrogenase / Induced Pluripotent Stem Cells Limits: Female / Humans / Male Language: En Year: 2024 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Succinate-Semialdehyde Dehydrogenase / Induced Pluripotent Stem Cells Limits: Female / Humans / Male Language: En Year: 2024 Type: Article