Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines

Dominic Jauvin; Marion Pierre; Mohamed Boutjdir; Jack Puymirat; Mohamed Chahine

doi:10.1016/j.scr.2023.103037

Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines

Stem Cell Res. 2023 Mar:67:103037. doi: 10.1016/j.scr.2023.103037. Epub 2023 Jan 31.

Authors

Dominic Jauvin¹, Marion Pierre¹, Mohamed Boutjdir², Jack Puymirat³, Mohamed Chahine⁴

Affiliations

¹ CERVO Research Centre, Institut Universitaire en Santé Mentale de Québec, Quebec City, QC G1J 2G3, Canada.
² Cardiovascular Research Program, VA New York Harbor Healthcare System, New York, NY 11209, USA; Department of Medicine, Cell Biology and Pharmacology, State University of New York Downstate Health, Science University, New York, NY 11203, USA; Department of Medicine, NYU School of Medicine, New York, NY 10016, USA.
³ LOEX, CHU de Québec-Université Laval Research Center, Quebec City, QC G1J 1Z4, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC G1V 0A6, Canada.
⁴ CERVO Research Centre, Institut Universitaire en Santé Mentale de Québec, Quebec City, QC G1J 2G3, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC G1V 0A6, Canada. Electronic address: Mohamed.Chahine@phc.ulaval.ca.

PMID: 36739767
DOI: 10.1016/j.scr.2023.103037

Abstract

Myotonic dystrophy Type 1 (DM1) is a severe inherited neuromuscular disease and is the most prevalent form of muscular dystrophy in adults. DM1 involves not only the striated muscles including skeletal, and cardiac but also other organs such as the eye, brain and gonads. We have generated and characterized 4 adult heterozygous DM1 iPSC lines carrying between 1300 and 1600 CTG repeat expansion in the DM1 protein kinase gene, and a control from an apparently healthy individual. They all show strong pluripotency markers, differentiation capacity, the absence of residual viral vectors as well as normal karyotypes and colony morphologies.

Publication types

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

MeSH terms

Adult
Cell Line
Humans
Induced Pluripotent Stem Cells* / metabolism
Muscle, Skeletal / metabolism
Myotonic Dystrophy* / metabolism
Myotonin-Protein Kinase / genetics
Trinucleotide Repeat Expansion

Substances

Myotonin-Protein Kinase