iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.

التفاصيل البيبلوغرافية
العنوان: iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.
المؤلفون: Busquets O; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA.; Ruth L. and David S. Gottesman Institute for Stem Cell and Regenerative Medicine Research, Albert Einstein College of Medicine, 1301 Morris Park Ave., Bronx, NY 10461, USA.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; These authors contributed equally., Li H; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA.; These authors contributed equally., Mohieddin Syed K; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA.; These authors contributed equally., Jerez PA; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; These authors contributed equally., Dunnack J; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA.; These authors contributed equally., Bu RL; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA., Verma Y; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Pangilinan GR; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Martin A; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Straub J; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Du Y; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Simon VM; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Poser S; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA., Bush Z; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Ave., Bronx, NY 10461, USA., Diaz J; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA., Sahagun A; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Gao J; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Hernandez DG; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA., Levine KS; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA., Booth EO; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Bateup HS; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA.; Chan Zuckerberg Biohub, San Francisco, CA, 94158, USA.; Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA 94720, USA., Rio DC; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA., Hockemeyer D; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA.; Innovative Genomics Institute, University of California, Berkeley, CA, 94720, USA.; Chan Zuckerberg Biohub, San Francisco, CA, 94158, USA.; Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA 94720, USA., Blauwendraat C; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA., Soldner F; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY 10461, USA.; Ruth L. and David S. Gottesman Institute for Stem Cell and Regenerative Medicine Research, Albert Einstein College of Medicine, 1301 Morris Park Ave., Bronx, NY 10461, USA.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Ave., Bronx, NY 10461, USA.; Lead contact.
المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Feb 13. Date of Electronic Publication: 2024 Feb 13.
نوع المنشور: Preprint
اللغة: English
بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
مستخلص: Parkinson's disease (PD) is a neurodegenerative disorder caused by complex genetic and environmental factors. Genome-edited human pluripotent stem cells (hPSCs) offer the uniique potential to advance our understanding of PD etiology by providing disease-relevant cell-types carrying patient mutations along with isogenic control cells. To facilitate this experimental approach, we generated a collection of 55 cell lines genetically engineered to harbor mutations in genes associated with monogenic PD ( SNCA A53T, SNCA A30P, PRKN Ex3del, PINK1 Q129X, DJ1/PARK7 Ex1-5del, LRRK2 G2019S, ATP13A2 FS, FBXO7 R498X/FS, DNAJC6 c.801 A>G+FS, SYNJ1 R258Q/FS, VPS13C A444P, VPS13C W395C, GBA1 IVS2+1). All mutations were generated in a fully characterized and sequenced female human embryonic stem cell (hESC) line (WIBR3; NIH approval number NIHhESC-10-0079) using CRISPR/Cas9 or prime editing-based approaches. We implemented rigorous quality controls, including high density genotyping to detect structural variants and confirm the genomic integrity of each cell line. This systematic approach ensures the high quality of our stem cell collection, highlights differences between conventional CRISPR/Cas9 and prime editing and provides a roadmap for how to generate gene-edited hPSCs collections at scale in an academic setting. We expect that our isogenic stem cell collection will become an accessible platform for the study of PD, which can be used by investigators to understand the molecular pathophysiology of PD in a human cellular setting.
معلومات مُعتمدة: P30 CA013330 United States CA NCI NIH HHS
تواريخ الأحداث: Date Created: 20240226 Latest Revision: 20240304
رمز التحديث: 20240304
مُعرف محوري في PubMed: PMC10888955
DOI: 10.1101/2024.02.12.579917
PMID: 38405931
قاعدة البيانات: MEDLINE
الوصف
DOI:10.1101/2024.02.12.579917