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

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

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

Stem cell research, 04/2023, Volume: 68

Journal Article

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 and are able to differentiate into the three germ cell layers.

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