Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease
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Title
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease
Authors
Keywords
CLN2, TPP1, CRISPR/Cas9, Genome editing, Embryonic stem cells, Disease model
Journal
Stem Cell Research
Volume 53, Issue -, Pages 102323
Publisher
Elsevier BV
Online
2021-04-06
DOI
10.1016/j.scr.2021.102323
References
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Note: Only part of the references are listed.- Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies
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- Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
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- Genetically unmatched human iPSC and ESC exhibit equivalent gene expression and neuronal differentiation potential
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- Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells
- (2011) Yi Cao et al. PLoS One
- A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement
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- Structure of Tripeptidyl-peptidase I Provides Insight into the Molecular Basis of Late Infantile Neuronal Ceroid Lipofuscinosis
- (2008) Aritra Pal et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Differentiation of Human Embryonic Stem Cells to Regional Specific Neural Precursors in Chemically Defined Medium Conditions
- (2008) Slaven Erceg et al. PLoS One
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