Description:
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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Asian
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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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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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 |
SLC25A13 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
603859.0003; CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
| Identified Mutation |
c.1638_1660dup23 |
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| Gene |
SLC25A13 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
603859.0001; CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
| Identified Mutation |
c.851_854del |
| Remarks |
Clinically affected; elevated citrulline in blood; two mutations found in the SLC25A13 gene (c.851_854del and c.1638_1660dup23). |
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