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KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.

作者信息

Gracia-Diaz Carolina, Perdomo Jonathan E, Khan Munir E, Roule Thomas, Disanza Brianna L, Cajka Gregory G, Lei Sunyimeng, Gagne Alyssa L, Maguire Jean Ann, Shalem Ophir, Bhoj Elizabeth J, Ahrens-Nicklas Rebecca C, French Deborah L, Goldberg Ethan M, Wang Kai, Glessner Joseph T, Akizu Naiara

机构信息

Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; School of Biomedical Engineering, Drexel University, Philadelphia, PA 19104, USA.

出版信息

Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007.

DOI:10.1016/j.stem.2024.02.007
PMID:38458176
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11857058/
Abstract
摘要

相似文献

1
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.KOLF2.1J诱导多能干细胞携带与神经发育障碍相关的拷贝数变异。
Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007.
2
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.高密度单核苷酸多态性阵列及基因组测序再分析揭示了与KOLF2.1J诱导多能干细胞中神经发育障碍相关的拷贝数变异。
bioRxiv. 2023 Jun 26:2023.06.26.546614. doi: 10.1101/2023.06.26.546614.
3
Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modelling.KOLF2.1J中的大型结构变异不太可能影响神经疾病建模。
bioRxiv. 2024 Jan 29:2024.01.29.577739. doi: 10.1101/2024.01.29.577739.
4
CNVs in neurodevelopmental disorders.神经发育障碍中的拷贝数变异
Oncotarget. 2015 Jul 30;6(21):18238-9. doi: 10.18632/oncotarget.4853.
5
Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2.1J.人诱导多能干细胞参考系 KOLF2.1J 中保留了线粒体 DNA 完整性和代谢组特征。
Stem Cell Reports. 2024 Mar 12;19(3):343-350. doi: 10.1016/j.stemcr.2024.01.009. Epub 2024 Feb 22.
6
A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.遗传疾病与细胞损伤之间的关联，利用人类诱导多能干细胞揭示中枢神经系统中拷贝数变异的功能后果——对 15 号染色体的深入观察。
Int J Mol Sci. 2020 Mar 9;21(5):1860. doi: 10.3390/ijms21051860.
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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.拷贝数变异（CNVs）：基于 iPSC 的 ASD 建模的有力工具。
Mol Autism. 2020 Jun 1;11(1):42. doi: 10.1186/s13229-020-00343-4.
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Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.作为神经发育障碍风险因素的复发性拷贝数变异：临床意义的批判性综述与分析
J Med Genet. 2016 Feb;53(2):73-90. doi: 10.1136/jmedgenet-2015-103366. Epub 2015 Oct 26.
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Association of Rare Copy Number Variants With Risk of Depression.罕见拷贝数变异与抑郁风险的关联。
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Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders.反复出现的相互拷贝数变异：在神经发育障碍中的作用和规律。
Dev Neurobiol. 2018 May;78(5):519-530. doi: 10.1002/dneu.22587. Epub 2018 Mar 25.

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Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.反义寡核苷酸调节SCN1A相关的德朗热综合征中毒性外显子的异常包含。
JCI Insight. 2025 Feb 13;10(7):e188014. doi: 10.1172/jci.insight.188014.
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RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.致病 LRRK2 通过磷酸化 RAB3 来损害突触囊泡前体的运输。
J Cell Biol. 2024 Jun 3;223(6). doi: 10.1083/jcb.202307092. Epub 2024 Mar 21.
3
Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modelling.KOLF2.1J中的大型结构变异不太可能影响神经疾病建模。
bioRxiv. 2024 Jan 29:2024.01.29.577739. doi: 10.1101/2024.01.29.577739.
4
RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.致病性亮氨酸重复激酶2（LRRK2）介导的RAB3磷酸化会损害突触小泡前体的运输。
bioRxiv. 2023 Jul 25:2023.07.25.550521. doi: 10.1101/2023.07.25.550521.

本文引用的文献

1
ISSCR standards for the use of human stem cells in basic research.国际干细胞研究学会人类干细胞基础研究使用标准。
Stem Cell Reports. 2023 Sep 12;18(9):1744-1752. doi: 10.1016/j.stemcr.2023.08.003.
2
A survey of algorithms for the detection of genomic structural variants from long-read sequencing data.长读测序数据中基因组结构变异检测算法研究综述。
Nat Methods. 2023 Aug;20(8):1143-1158. doi: 10.1038/s41592-023-01932-w. Epub 2023 Jun 29.
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A draft human pangenome reference.人类泛基因组参考草图。
Nature. 2023 May;617(7960):312-324. doi: 10.1038/s41586-023-05896-x. Epub 2023 May 10.
4
A reference human induced pluripotent stem cell line for large-scale collaborative studies.一个用于大规模合作研究的参考性人诱导多能干细胞系。
Cell Stem Cell. 2022 Dec 1;29(12):1685-1702.e22. doi: 10.1016/j.stem.2022.11.004.
5
A cross-disorder dosage sensitivity map of the human genome.人类基因组的跨疾病剂量敏感性图谱。
Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1.
6
Quantitative proteome remodeling characterization of two human reference pluripotent stem cell lines during neurogenesis and cardiomyogenesis.定量蛋白质组重塑特征分析：在神经发生和心肌发生过程中，两种人类参考多能干细胞系的变化。
Proteomics. 2022 Oct;22(19-20):e2100246. doi: 10.1002/pmic.202100246. Epub 2022 Aug 2.
7
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.JARID2 杂合性不足与一种具有临床显著差异的神经发育综合征相关。
Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20.
8
The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
9
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.9号染色体长臂33.1区ASTN2/TRIM32基因座的破坏是男性患自闭症谱系障碍、注意力缺陷多动障碍和其他神经发育表型的一个风险因素。
Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.
10
Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.BLOC-1 复合物亚基 dysbindin 的细胞生物学，一种精神分裂症易感性基因。
Mol Neurobiol. 2011 Aug;44(1):53-64. doi: 10.1007/s12035-011-8183-3. Epub 2011 Apr 26.