Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Oguz K. Ozgoren; Glen Lester Sequiera; Costanza Ferrari Bardile; Sophia C. Gjervan; Areesha Salman; Anna Lehman; Stuart E. Turvey; Colin J.D. Ross; Sylvia Stockler; Mahmoud A. Pouladi

Stem Cell Research (Sep 2023)

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Oguz K. Ozgoren,
Glen Lester Sequiera,
Costanza Ferrari Bardile,
Sophia C. Gjervan,
Areesha Salman,
Anna Lehman,
Stuart E. Turvey,
Colin J.D. Ross,
Sylvia Stockler,
Mahmoud A. Pouladi

Affiliations

Oguz K. Ozgoren: Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Glen Lester Sequiera: Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Costanza Ferrari Bardile: Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Sophia C. Gjervan: Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Areesha Salman: Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Anna Lehman: Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Stuart E. Turvey: Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada
Colin J.D. Ross: Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Sylvia Stockler: Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada
Mahmoud A. Pouladi: Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada; Corresponding author.

Journal volume & issue: Vol. 71
p. 103174

Abstract

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Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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