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Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation.

Abstract：

:Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. Induced pluripotent stem cells express pluripotency markers, demonstrate trilineage differentiation potential, and display a normal karyotype. This line is a useful resource for studying and modeling hypertrophic cardiomyopathy. Resource table.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Holliday M,Ross SB,Lim S,Semsarian C

doi

10.1016/j.scr.2018.10.009

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

56-59

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(18)30255-1

journal_volume

33

pub_type

杂志文章

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