Skip to content
DraconiticResearch
Search Sources API
197,768 studies31 sourcesUpdated 14 min ago
Peer-reviewedCC BYNature Communications

iSCORE-PD: an isogenic stem cell collection to research Parkinson’s disease

  • Oriol Busquets1,2,3,4,5,6
  • Hanqin Li1,7,8,4,9
  • Khaja Mohieddin Syed1,7,4,9
  • Pilar Álvarez Jerez10,11,12
  • Jesse Dunnack1,7,4,9
  • Riana Lo Bu1,2,4,5
  • Yogendra Verma1,7,4,9
  • Gabriella Rita Pangilinan1,7,4,9
  • Annika Martin7,9
  • Jannes Straub1,7,4,9
  • YuXin Du1,7,4,9
  • Vivien M. Simon7,9
16 more authors
  • Steven Poser1,2,4,5
  • Zipporiah Bush1,13,4,14
  • Jessica Diaz1,2,4,5
  • Atehsa Sahagun1,7,15,4,9
  • Jianpu Gao7,9
  • Samantha Hong10
  • Dena G. Hernandez16,17
  • Kristin S. Levine10,12
  • Nathalie L.M.M. Pochet2,4,9
  • Ezgi O. Booth1,7
  • Marco Blanchette18,4,19,9,20
  • Helen S. Bateup1,21,7,15,4,9
  • Donald C. Rio1,7,12,17
  • Cornelis Blauwendraat10,16,4,19,9,20,22
  • Dirk F. Hockemeyer23,24,25,26,4,14,5,6
  • Frank Soldner27,28,29,30
30 affiliations
  1. 1Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA
  2. 2Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, NY, USA
  3. 3Ruth L. and David S. Gottesman Institute for Stem Cell and Regenerative Medicine Research, Albert Einstein College of Medicine, Bronx, NY, USA
  4. 4Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA
  5. 5Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Rose F. Kennedy Center, Albert Einstein College of Medicine, 40 Pelham Parkway South, Bronx, NY 046, USA
  6. 6Ruth 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
  7. 7Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA
  8. 8Innovative Genomics Institute, University of California, Berkeley, CA, USA
  9. 9Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 9720, USA
  10. 10Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
  11. 11Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK
  12. 12Center 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
  13. 13Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA
  14. 14Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Ave., Bronx, NY 10461, USA
  15. 15Department of Neuroscience, University of California, Berkeley, Berkeley, CA, USA
  16. 16Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
  17. 17Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA
  18. 18LiftOff Biosolution, Santa Cruz, CA, USA
  19. 19Chan Zuckerberg Biohub, San Francisco, CA, 4158, USA
  20. 20Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA 94720, USA
  21. 21Chan Zuckerberg Biohub, San Francisco, CA, USA
  22. 22Innovative Genomics Institute, University of California, Berkeley, CA, 94720, USA
  23. 23Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. [email protected]
  24. 24Chan Zuckerberg Biohub, San Francisco, CA, USA. [email protected]
  25. 25Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA. [email protected]
  26. 26Innovative Genomics Institute, University of California, Berkeley, CA, USA. [email protected]
  27. 27Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. [email protected]
  28. 28Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA. [email protected]
  29. 29Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, Bronx, NY, USA. [email protected]
  30. 30Ruth L. and David S. Gottesman Institute for Stem Cell and Regenerative Medicine Research, Albert Einstein College of Medicine, Bronx, NY, USA. [email protected]
Open at sourceDOICite

Abstract

Genome-edited human pluripotent stem cells (hPSCs) provide a powerful platform to study complex diseases such as Parkinson’s disease (PD). Here, we describe iSCORE-PD, an isogenic collection of 65 genome-edited hPSC lines carrying disease-causing or high-risk variants in 11 PD-linked genes ( SNCA, PRKN, PINK1, DJ1/PARK7, LRRK2, ATP13A2, FBXO7, DNAJC6, SYNJ1, VPS13C , and GBA1 ). All lines are derived from a well-characterized female hESC line and subjected to extensive quality control. Whole-genome sequencing reveals that genetic variation between lines, largely confined to non-coding regions, is minimal relative to inter-individual differences in patient-derived hiPSCs, with most variation arising from random mutations acquired during cell culture rather than genome-editing-induced off-target effects. Including multiple independently derived clones per mutation can control for this random genetic drift. Our systematic approach ensures high quality of this publicly available iSCORE-PD resource, highlights the advantages of prime editing over conventional CRISPR/Cas9 methods, and establishes best practices for generating disease-modeling hPSC collections.

Related

  1. High-Throughput Plasma Proteomic Profiling Identifies Novel Biomarker Candidates in Parkinson’s Disease with Cognitive Decline
    Shervin Khosousi, Latha Velayudhan, Xiaoping Yang +4
    Molecular & Cellular ProteomicsPeer-reviewedLicence not statedProteomics & metabolomicsCrossref
  2. Mitochondrial protein import stress in Parkinson’s disease: the TOM/TIM–PINK1/Parkin–DELE1/HRI axis linking mitochondrial proteostasis to neuronal death
    Bo Pang, Xin Li, Yunlong Sun +1
    Frontiers in cell and developmental biologyPeer-reviewedCC BYFull textGeneral biochemistryEurope PMC
  3. Protocol for precise large-region haplotype modification for isogenic human iPSC generation using CRISPR-Cas9
    Manoj K. Mishra, Rajan Pandey, Bhavika Therani +3
    STAR ProtocolsPeer-reviewedCC BY-NC 4.0Full textMolecular biology & gene regulationPMC
  4. Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls
    Veronica Siew Leng Chng, Kayli C. Davies, Katerina Vlahos +6
    Stem Cell ResearchPeer-reviewedCC BYFull textMolecular biology & gene regulationDOAJ
  5. Targeting BCL11B-mediated JAK2/STAT3 activation: A novel therapeutic strategy for Parkinson’s disease
    Wenwen Chen, Yejing Zhang, Xinrui Zhou +4
    iSciencePeer-reviewedCC BY 4.0Full textMolecular biology & gene regulationNeurologyCell PressCrossrefEurope PMC

Cite

BibTeXRIS
BibTeX
@article{busquets2026iscorepd,
  title = {{iSCORE-PD: an isogenic stem cell collection to research Parkinson’s disease}},
  author = {Oriol Busquets and Hanqin Li and Khaja Mohieddin Syed and Pilar Álvarez Jerez and Jesse Dunnack and Riana Lo Bu and Yogendra Verma and Gabriella Rita Pangilinan and Annika Martin and Jannes Straub and YuXin Du and Vivien M. Simon and Steven Poser and Zipporiah Bush and Jessica Diaz and Atehsa Sahagun and Jianpu Gao and Samantha Hong and Dena G. Hernandez and Kristin S. Levine and Nathalie L.M.M. Pochet and Ezgi O. Booth and Marco Blanchette and Helen S. Bateup and Donald C. Rio and Cornelis Blauwendraat and Dirk F. Hockemeyer and Frank Soldner},
  journal = {Nature Communications},
  year = {2026},
  month = jun,
  doi = {10.1038/s41467-026-74355-8},
  url = {https://doi.org/10.1038/s41467-026-74355-8},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - iSCORE-PD: an isogenic stem cell collection to research Parkinson’s disease
AU  - Oriol Busquets
AU  - Hanqin Li
AU  - Khaja Mohieddin Syed
AU  - Pilar Álvarez Jerez
AU  - Jesse Dunnack
AU  - Riana Lo Bu
AU  - Yogendra Verma
AU  - Gabriella Rita Pangilinan
AU  - Annika Martin
AU  - Jannes Straub
AU  - YuXin Du
AU  - Vivien M. Simon
AU  - Steven Poser
AU  - Zipporiah Bush
AU  - Jessica Diaz
AU  - Atehsa Sahagun
AU  - Jianpu Gao
AU  - Samantha Hong
AU  - Dena G. Hernandez
AU  - Kristin S. Levine
AU  - Nathalie L.M.M. Pochet
AU  - Ezgi O. Booth
AU  - Marco Blanchette
AU  - Helen S. Bateup
AU  - Donald C. Rio
AU  - Cornelis Blauwendraat
AU  - Dirk F. Hockemeyer
AU  - Frank Soldner
PY  - 2026
DA  - 2026/06/17
JO  - Nature Communications
DO  - 10.1038/s41467-026-74355-8
UR  - https://doi.org/10.1038/s41467-026-74355-8
AB  - Genome-edited human pluripotent stem cells (hPSCs) provide a powerful platform to study complex diseases such as Parkinson’s disease (PD). Here, we describe iSCORE-PD, an isogenic collection of 65 genome-edited hPSC lines carrying disease-causing or high-risk variants in 11 PD-linked genes ( SNCA, PRKN, PINK1, DJ1/PARK7, LRRK2, ATP13A2, FBXO7, DNAJC6, SYNJ1, VPS13C , and GBA1 ). All lines are derived from a well-characterized female hESC line and subjected to extensive quality control. Whole-genome sequencing reveals that genetic variation between lines, largely confined to non-coding regions, is minimal relative to inter-individual differences in patient-derived hiPSCs, with most variation arising from random mutations acquired during cell culture rather than genome-editing-induced off-target effects. Including multiple independently derived clones per mutation can control for this random genetic drift. Our systematic approach ensures high quality of this publicly available iSCORE-PD resource, highlights the advantages of prime editing over conventional CRISPR/Cas9 methods, and establishes best practices for generating disease-modeling hPSC collections.
SN  - 2041-1723
ER  -