Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and premature death. CLN2 disease is caused by loss-of-function m...

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Bibliographic Details
Main Authors: Li Ma, Adriana M. Prada, Michael Schmidt, Eric M. Morrow
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Stem Cell Research
Subjects:
CLN2
TPP1
CRISPR/Cas9
Genome editing
Embryonic stem cells
Disease model
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121001690

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http://www.sciencedirect.com/science/article/pii/S1873506121001690

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