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

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

doi:10.1016/j.scr.2023.103057

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

Stem Cell Res. 2023 Apr:68:103057. doi: 10.1016/j.scr.2023.103057. Epub 2023 Feb 26.

Authors

Celine Banal¹, Eddy Quelennec¹, Cécile Talbotec², Anis Khiat³, Fabienne Charbit-Henrion⁴, Nadine Cerf-Bensussan³, Nathalie Lefort⁵, Corinne Lebreton⁶

Affiliations

¹ Université Paris Cité, Imagine Institute, INSERM U1163, iPS Core Facility, 75015 Paris, France.
² Department of Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, F-75015 Paris, France.
³ Université Paris Cité, Imagine Institute, INSERM U1163 and Laboratory of Intestinal Immunity, 75015 Paris, France.
⁴ Department of Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, F-75015 Paris, France; Department of Genomic Medecine for Rare Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, F-75015 Paris, France.
⁵ Université Paris Cité, Imagine Institute, INSERM U1163, iPS Core Facility, 75015 Paris, France. Electronic address: nathalie.lefort@inserm.fr.
⁶ Université Paris Cité, Imagine Institute, INSERM U1163 and Laboratory of Intestinal Immunity, 75015 Paris, France. Electronic address: corinne.lebreton@inserm.fr.

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

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Induced Pluripotent Stem Cells*
Intracellular Signaling Peptides and Proteins / genetics
Malabsorption Syndromes*
Mucolipidoses*
Mutation
Mutation, Missense

Substances

UNC45A protein, human
Intracellular Signaling Peptides and Proteins

Supplementary concepts

Microvillus inclusion disease