GM22194
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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Ethnicity
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DUTCH/SCOTTISH
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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 |
; BARTH SYNDROME |
| Identified Mutation |
COMPLETE DELETION |
| Remarks |
Clinically affected; one affected maternal nephew; family history of spontaneous abortions; 3-methylglutaconic aciduria; failure to thrive; neutropenia; donor subject has a complete deletion of the TAZ (G4.5) gene |
| Zegallai HM, Hatch GM, Impaired surface marker expression in stimulated Epstein-Barr virus transformed lymphoblasts from Barth Syndrome patients Scientific reports12:6195 2022 |
| PubMed ID: 35418665 |
| |
| 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 |
| |
| Ghosh S, Basu Ball W, Madaris TR, Srikantan S, Madesh M, Mootha VK, Gohil VM, An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter Proceedings of the National Academy of Sciences of the United States of America12:9466 2020 |
| PubMed ID: 32601238 |
| Split Ratio |
1:5 |
| 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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