GM22148
LCL from B-Lymphocyte
Description:
BARTH SYNDROME; BTHS
TAFAZZIN; TAZ
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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IRISH/ENGLISH/IRISH/GERMAN/SCOTTISH/MEXICAN/NATIVE
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Family History
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N
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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 |
| |
| Gene |
TAZ |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
L42X; BARTH SYNDROME |
| Identified Mutation |
LEU42TER |
| Remarks |
Clinically affected; maternal aunt and mother are carriers; two paternal cousins with Li-Fraumeni syndrome; perinatal hypoglycemia; dilated cardiomyopathy; neutropenia; growth retardation; weight to height ratio at birth 2.8; skeletal muscle weakness; 3-methylglutaconate in plasma is 847 nmol/l; donor subject is hemizygous for a 1 bp deletion (c.124delC) in exon 2 of the TAZ (G4.5) gene resulting in a frameshift and stop codon [Leu42Ter (L42X)] |
| Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schieble T, Wanders RJ, DiMauro S, Blanck TJ, Phospholipid abnormalities in children with Barth syndrome Journal of the American College of Cardiology42:1994-9 2003 |
| PubMed ID: 14662265 |
| Split Ratio |
1:3 |
| 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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