Description:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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German, Irish
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
MYBPC3 |
| Chromosomal Location |
11p11.2 |
| Allelic Variant 1 |
p.Cys528ThrfsX4; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 |
| Identified Mutation |
c.1577_1580dupCACT (p.C528TfsX4) |
| Remarks |
Clinically affected; Symptoms onset at age 25 including exertional chest pain, echocardiography shows stable morphology, cardiac function at the low end of normal range; Treatment: beta-blocker and Ca-channel blockers were not effective in managing chest pain and are no longer being taken, moderate-intensity exercise only; Sequencing revealed a heterozygous genetic variant in MYBPC3 gene (c.1577_1580dupCACT) resulting in a shift of reading frame starting at codon Cysteine 528 (p.Cys528ThrfsX4); Several family members share the same MYBPC3 mutation; Pedigree established: carrier heterozygote father, carrier heterozygote paternal grandfather who died from idiopathic pulmonary fibrosis and underwent quadruple coronary bypass surgery, 2 carrier paternal aunts (1 of which with preclinical HCM), 1 HCM clinically affected cousin, and 1 preclinical HCM carrier cousin. Same donor as GM29381 iPSC. |
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