GM29336
LCL from B-Lymphocyte
Description:
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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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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Caucasian
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Subject Type
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family with at least 3 members, including 1 proband, not a trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Swedish, German, Irish
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Country of Origin
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USA
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Family Member
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4
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Family History
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Y
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Relation to Proband
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sister
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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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| Remarks |
Affected sibling is GM29342. Unaffected sibling is GM29339. |
| 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 |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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