Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyop...

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Published inStem cell research Vol. 76; p. 103370
Main Authors Li, Jingxian, Jiang, Jinxiu, Ye, Lingqun, Lian, Zhipeng, Gong, Hui, Lei, Wei, Dai, Yuxiang, Hu, Shijun
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.04.2024
Elsevier
Subjects
Cardiomyopathies - genetics
Cardiomyopathy, Restrictive - genetics
Humans
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Male
Mutation - genetics
Young Adult
Online AccessGet full text
ISSN1873-5061
1876-7753
1876-7753
DOI10.1016/j.scr.2024.103370

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Summary:Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of CRYAB gene (c.326A > G, p.D109G), which was consistent with clinical whole exon sequencing results. We confirmed the pluripotency, multipotential differentiation and karyotype of hiPSCs. The hiPSCs will be useful for studying the pathogenesis of RCM caused by CRYAB (c.326A > G) mutation.
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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103370