Generation of an iPSC line (CHWi001-A) from peripheral blood mononuclear cells in a patient with intellectual disability and haploinsufficiency of PLPPR4
Author:
Funder
Major Scientific and Technological Project
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference5 articles.
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2. Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability;Chen;Mol. Diagn. Ther.,2018
3. A new phospholipid phosphatase, PRG-1, is involved in axon growth and regenerative sprouting;Bräuer;Nat. Neurosci.,2003
4. Altered synaptic phospholipid signaling in PRG-1 deficient mice induces exploratory behavior and motor hyperactivity resembling psychiatric disorders;Schneider;Behav. Brain Res.,2018
5. . Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C >T) mutation in the LMNA gene;Xiao;Stem Cell Res.,2020
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Spotlight on plasticity-related genes: Current insights in health and disease;Pharmacology & Therapeutics;2024-08
2. PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling;Journal of Cellular and Molecular Medicine;2023-08-07
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