GM25993
LCL from B-Lymphocyte
Description:
MYOPATHY, CENTRONUCLEAR, 1; CNM1
TITIN; TTN
CARDIOMYOPATHY DILATED 1G; CMD1G
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
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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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LCL from B-Lymphocyte
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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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IRISH/FRENCH CANADIAN/ENGLISH
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Country of Origin
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USA
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Family Member
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4
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Family History
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N
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Relation to Proband
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grandmother
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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 |
TTN |
| Chromosomal Location |
2q31.2 |
| Allelic Variant 1 |
; CENTRONUCLEAR MYOPATHY 1 |
| Identified Mutation |
37112-1G>A (IVS191-1G>A); Titin, or connectin, is a giant muscle protein expressed in the cardiac and skeletal muscles that spans half of the sarcomere from Z line to M line. Titin plays a key role in muscle assembly, force transmission at the Z line, and maintenance of resting tension in the I band region (Itoh-Satoh et al., 2002). |
| Remarks |
Affected carrier; history of dilated cardiomyopathy; hypertension; Type 2 diabetes mellitus, hyperlipidemia, hypothyroidism; supraventricular tachycardia (SVT) ablated; chest pain requiring stress evaluations; genetic testing revealed that the donor is heterozygous for a mutation in intron 191 of the TTN gene: c.37112-1 G>A, IVS191-1 G>A; medications: cetirizine (Zyrtec), Diovan, ergocalciferol (Drisdol), escitalopram (Lexapro), Hyoscyamine, Januvia, Metformin, omeprazole (Prilosec), pravastatin (Pravachol), and Synthroid; affected carrier daughter is GM25951 (lymphoblast); affected grandson is GM23417 (lymphoblast) and GM25936 (fibroblast); affected grandson's father is GM25948 (lymphoblast); family is referenced in Neurology (2013) 81:1205-14, PMID:23975875-affected grandson is subject 314-1. |
| Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH, Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy Neurology81:1205-14 2013 |
| PubMed ID: 23975875 |
| Split Ratio |
1:4 |
| 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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