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Development of MAPT S305 mutation human iPSC lines exhibiting elevated 4R tau expression and functional alterations in neurons and astrocytes.

Cell reports - 24 Dec 2024

Bowles Kathryn R, Pedicone Chiara, Pugh Derian A, Oja Laura-Maria, Sousa Filipa H, Keavey Lois K, Fulton-Howard Brian, Weitzman Sarah A, Liu Yiyuan, Chen Jonathan L, Disney Matthew D, Goate Alison M

Abstract excerpt

Due to the importance of 4R tau (with four microtubule-binding-repeat domains) in the pathogenicity of primary tauopathies, it has been challenging to model these diseases in induced pluripotent stem cell (iPSC)-derived neurons, which express very low levels of 4R tau. To address this, we have developed a panel of isogenic iPSC lines carrying MAPT splice-site mutations, S305S, S305I, or S305N, derived from four...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39602304
DOI: 10.1016/j.celrep.2024.115013
PMCID: PMC13478741

Genes

MAPT

Variants

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