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 |
| Protocols |
Protocol PDF |
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Biopsy Source
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Blood
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Blood
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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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ISCN
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46,XY[20]
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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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| Passage Frozen |
13 |
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| Induced Pluripotent Stem Cell |
The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| Passage Frozen |
13 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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