Characterization of a loss-offunction NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected induced pluripotent stem cell lines
收藏NIAID Data Ecosystem2026-05-02 收录
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https://zenodo.org/record/10396610
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资源简介：
RNA-seq data of matured cortical neurons (8-weeks old) derived from the induced pluripoent stem cells (iPSC) of control parents (CtrlF and CtrlM) and corrected proband. There are three replicates (Rep1, Rep2, Rep3) for each sample with Forwad read (R1_001.fastq.gz)
CtrlF: Control Father sample
CtrlM: Control mother sample
NDD_01_Corr_Het: Heterozygous correction of NAPB mutation (c.354+2T>G) in NDD_01 proband
NDD_05_Corr_Hom: Homozygous correction of NAPB mutation (c.354+2T>G) in NDD_05 proband
创建时间：
2024-08-12
