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Article

A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.

Stem cell research & therapy - 15 Feb 2026

Harissa Zainab, Bloks Niek, Steward Nancy, Tufa Sara F, Keene Douglas R, Ramos Yolande F M, Meulenbelt Ingrid, Guilak Farshid

Abstract excerpt

Osteoarthritis (OA) is a complex disease associated with genetic, biological, and mechanical risk factors that act, in part, to alter chondrocyte homeostasis. Our recent exome sequencing studies identified a damaging genetic variant in COL6A3, a monomeric unit of collagen type VI and a distinguishing component of the pericellular matrix (PCM) of articular cartilage, a transducer of mechanical and biochemical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41692747
DOI: 10.1186/s13287-026-04940-7
PMCID: PMC13011553

Genes

COL6A3
TRPV4
BMAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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