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Accepted (AM)Open Access (License Unspecified), Open
Letter/Communication
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Cell stem cell, v 31(3), pp 288-289
07 Mar 2024
PMID: 38458176
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
A major challenge of studies with human pluripotent stem cells (hPSCs) is their intrinsic variability. Inspired by the success of isogenic strains of model organisms, a recent initiative proposed to overcome this challenge by adopting a widespread use of reference hPSC lines. 1 Genomic and functional characterization of nine induced hPSCs (iPSCs) suggested KOLF2.1J iPSCs as an ideal reference due to their good pluripotency and differentiation performance, high gene editing efficiency, and low burden of deleterious genetic variants after the correction of a heterozygous 19 bp deletion in ARID2, a gene associated with a neurodevelopmental disorder (OMIM #617808).
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Details
- Title
- KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
- Creators
- Carolina Gracia-Diaz - University of PennsylvaniaJonathan E Perdomo - Drexel University, Graduate School of Biomedical Sciences and Professional StudiesMunir E Khan - Children's Hospital of PhiladelphiaThomas Roule - University of PennsylvaniaBrianna L Disanza - University of PennsylvaniaGregory G Cajka - University of PennsylvaniaSunyimeng Lei - Children's Hospital of PhiladelphiaAlyssa L Gagne - University of PennsylvaniaJean Ann Maguire - University of PennsylvaniaOphir Shalem - University of PennsylvaniaElizabeth J Bhoj - University of PennsylvaniaRebecca C Ahrens-Nicklas - Raymond and Ruth Perelman School of Medicine at the University of PennsylvaniaDeborah L French - University of PennsylvaniaEthan M Goldberg - University of PennsylvaniaKai Wang - University of PennsylvaniaJoseph T Glessner - Children's Hospital of PhiladelphiaNaiara Akizu - University of Pennsylvania
- Publication Details
- Cell stem cell, v 31(3), pp 288-289
- Publisher
- Elsevier
- Number of pages
- 2
- Resource Type
- Letter/Communication
- Language
- English
- Academic Unit
- Graduate School of Biomedical Sciences and Professional Studies
- Web of Science ID
- WOS:001220593800001
- Scopus ID
- 2-s2.0-85186355563
- Other Identifier
- 991021893414104721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Cell & Tissue Engineering
- Cell Biology