GM22147
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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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 |
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| Gene |
TAZ |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300394.0007; BARTH SYNDROME |
| Identified Mutation |
IVS1+5G>C |
| Remarks |
Clinically affected; four affected maternal uncles (three deceased before age one year); dilated cardiomyopathy with onset at age 4 months; neutropenia; growth retardation; weight to height ratio at birth 3.1/49; cholesterol at >1 year of age was 107 mg/dl; skeletal muscle weakness; carnitine levels 40/46 (free/total); 3-methylglutaconate in plasma is 2001 nmol/l; donor subject is hemizygous for a donor splice site mutation in the TAZ (G4.5) gene: IVS1+5G>C |
| 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 |
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| Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R, Mutation characterization and genotype-phenotype correlation in Barth syndrome American journal of human genetics61:1053-8 1997 |
| PubMed ID: 9345098 |
| 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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