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Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.

Stem cell research - 1 Apr 2023

Banal Celine, Quelennec Eddy, Talbotec Cécile, Khiat Anis, Charbit-Henrion Fabienne, Cerf-Bensussan Nadine, Lefort Nathalie, Lebreton Corinne

Abstract excerpt

Mutations in UNC45A, a co-chaperone for myosins, were recently found causative of a syndrome combining cholestasis, diarrhea, loss of hearing and bone fragility. We generated induced pluripotent stem cells (iPSCs) from a patient with a homozygous missense mutation in UNC45A. Cells from this patient, which were reprogrammed using integration-free Sendaï virus, have normal karyotype, express pluripotency markers...

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Induced Pluripotent Stem Cells
Intracellular Signaling Peptides and Proteins
Malabsorption Syndromes
Microvilli

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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Identifiers

PMID: 36868038
DOI: 10.1016/j.scr.2023.103057

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.PMID 36868038Read ↗

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