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Generation of Pathogenic TPP1 Mutations in Human Stem Cells as a Model for CLN2 Disease
[article]
2021
bioRxiv
pre-print
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 mutations in the tripeptidyl peptidase 1 (TPP1) gene leading to deficiency in TPP1 enzyme activity. Approximately 60% of patients have one of two pathogenic variants (c.509-1G>C or c.622C>T
doi:10.1101/2021.01.05.425495
fatcat:3x5qrjncbratxmbalwt4mjq3lu