Article

Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes

2021-06-15

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the TRPV4 ion channel can lead to a range of skeletal dysplasias. However, the mechanisms by which TRPV4 mutations lead to distinct disease severity remain unknown. Here, we use CRISPR-Cas9-edited human induced pluripotent stem cells (hiPSCs) harboring either the mild V620I or lethal T89I mutations to elucidate the differential effects on channel function and chondrogenic differenti...

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Literature Corpus work: e5cc7f67-d068-5855-a704-1653d176b133
DOI: 10.1101/2021.06.15.448562

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