We obtained induced pluripotent stem cells (iPSCs) from the HCM patient carrying heterozygous p.M659I (c.1977G > A) mutation in MYH7 encoding for β-myosin heavy chain (See Table 1). The mutation was also found in a population study of HCM patients (Richard et al., 2003) but its clinical significance is still unknown.
Case1: male, 38, caucasian
DiseaseAssertion: hypertrophic cardiomyopathy
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting:
GenotypingMethod: the presence of p.M659I (c.1977G > A) mutation in the iPSC lines was confirmed by Sanger sequencing of exon 18 of MYH7 (Fig. 1F).
Variant: NM_000257.4:c.1977G>A
ClinVar: not found
CAID: CA389049400
gnomAD: not found