GM27131
LCL from B-Lymphocyte
Description:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
German, Irish
|
Country of Origin
|
USA
|
Family History
|
Y
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
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. |
Split Ratio |
1:6 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
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