Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons

Sara Cuvertino; Evgenii Martirosian; Kedar Bhosale; Peiwen Cheng; Terence Garner; Ian J. Donaldson; Adam Jackson; Adam Stevens; Andrew D. Sharrocks; Susan J. Kimber; Siddharth Banka

doi:10.1371/journal.pgen.1011608

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Open Access

Peer-reviewed

Research Article

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons

Sara Cuvertino ,

Contributed equally to this work with: Sara Cuvertino, Evgenii Martirosian, Susan J. Kimber, Siddharth Banka

Roles Conceptualization, Data curation, Funding acquisition, Investigation, Project administration, Visualization, Writing – original draft, Writing – review & editing

* E-mail: Sara.Cuvertino@manchester.ac.uk (SC); Sue.Kimber@manchester.ac.uk (SJK); Siddharth.Banka@manchester.ac.uk (SB)

Affiliations Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom

https://orcid.org/0000-0002-6750-5615

⨯
Evgenii Martirosian ,

Contributed equally to this work with: Sara Cuvertino, Evgenii Martirosian, Susan J. Kimber, Siddharth Banka

Roles Data curation, Investigation, Project administration, Visualization, Writing – original draft, Writing – review & editing

Affiliations Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom, Division of Developmental Biology & Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom

https://orcid.org/0000-0002-7984-9810

⨯
Kedar Bhosale,

Roles Investigation, Validation

Affiliations Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom

https://orcid.org/0009-0003-9710-5115

⨯
Peiwen Cheng,

Roles Investigation, Visualization

Affiliations Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom

https://orcid.org/0009-0000-0228-1174

⨯
Terence Garner,

Roles Writing – review & editing

Affiliation Division of Developmental Biology & Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom
⨯
Ian J. Donaldson,

Roles Formal analysis

Affiliation Bioinformatics Core Facility, The University of Manchester, Manchester, United Kingdom
⨯
Adam Jackson,

Roles Writing – review & editing

Affiliations Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom, Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, Manchester, United Kingdom
⨯
Adam Stevens,

Roles Funding acquisition, Resources, Writing – review & editing

Affiliation Division of Developmental Biology & Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom
⨯
Andrew D. Sharrocks,

Roles Funding acquisition, Writing – review & editing

Affiliation Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom
⨯
Susan J. Kimber ,

Contributed equally to this work with: Sara Cuvertino, Evgenii Martirosian, Susan J. Kimber, Siddharth Banka

Roles Conceptualization, Funding acquisition, Project administration, Resources, Writing – review & editing

* E-mail: Sara.Cuvertino@manchester.ac.uk (SC); Sue.Kimber@manchester.ac.uk (SJK); Siddharth.Banka@manchester.ac.uk (SB)

Affiliation Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom

https://orcid.org/0000-0002-0568-6342

⨯
Siddharth Banka

Contributed equally to this work with: Sara Cuvertino, Evgenii Martirosian, Susan J. Kimber, Siddharth Banka

Roles Conceptualization, Funding acquisition, Project administration, Resources, Writing – review & editing

* E-mail: Sara.Cuvertino@manchester.ac.uk (SC); Sue.Kimber@manchester.ac.uk (SJK); Siddharth.Banka@manchester.ac.uk (SB)

Affiliations Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, United Kingdom, Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, Manchester, United Kingdom

https://orcid.org/0000-0002-8527-2210

⨯

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons

Sara Cuvertino,
Evgenii Martirosian,
Kedar Bhosale,
Peiwen Cheng,
Terence Garner,
Ian J. Donaldson,
Adam Jackson,
Adam Stevens,
Andrew D. Sharrocks,
Susan J. Kimber

Published: September 19, 2025
https://doi.org/10.1371/journal.pgen.1011608

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