GM22150
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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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 |
W79X; BARTH SYNDROME |
| Identified Mutation |
TRP79TER |
| Remarks |
Clinically affected; two affected maternal cousins (one deceased at 5 days of age); dilated cardiomyopathy; neutropenia; growth retardation; skeletal muscle weakness; 3-methylglutaconic aciduria; donor subject is hemizygous for a G>A change in exon 2 of the TAZ (G4.5) gene (c.236G>A) resulting in a stop codon [Trp79Ter (W79X)] |
| Chan JZ, Fernandes MF, Steckel KE, Bradley RM, Hashemi A, Groh MR, Sciaini G, Stark KD, Duncan RE, N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics Scientific reports12:9466 2021 |
| PubMed ID: 35676289 |
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| Gonzalez IL, Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A134(4):409-14 2005 |
| PubMed ID: 15793838 |
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| 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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