GM14075
LCL from B-Lymphocyte
Description:
NEMALINE MYOPATHY, AMISH TYPE; ANM
TROPONIN T1, SKELETAL, SLOW; TNNT1
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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 |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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AMISH
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Family Member
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1
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
TNNT1 |
| Chromosomal Location |
19q13.4 |
| Allelic Variant 1 |
191041.0001; NEMALINE MYOPATHY, AMISH TYPE (NEM5) |
| Identified Mutation |
GLU180TER; In affected individuals with Amish nemaline myopathy (605355), Johnston et al. [Am. J. Hum. Genet. 67: 814-821 (2000)] found a 579G-T transversion in exon 11 of the TNNT1 gene, resulting in a stop codon at amino acid 180 (E180X). |
| Remarks |
Amish; clinically unaffected; mother of two affected children; donor subject is heterozygous for a G-to-T transversion at nucleotide 579 (579G>T) in exon 11 of the troponin T1 (TNNT1) gene, resulting in a stop codon at amino acid 180 [GLU180TER (E180X)]. |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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