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Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new to...

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new to...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2864887982

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss

About this item

Full title

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss

Publisher

San Francisco: Public Library of Science

Journal title

PloS one, 2023-09, Vol.18 (9), p.e0288640

Language

English

Formats

Publication information

Publisher

San Francisco: Public Library of Science

More information

Scope and Contents

Contents

The
ELMOD3
gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying
ELMOD3
c.512A>G mutation. In addition, the patient-derived iPSC line was corrected by CRISPR/Cas9 genome e...

Alternative Titles

Full title

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2864887982

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2864887982

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0288640

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