GM23809
LCL from B-Lymphocyte
Description:
CITRULLINEMIA, CLASSIC
ARGININOSUCCINATE SYNTHETASE 1; ASS1
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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 |
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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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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 |
ASS1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 1 |
; CITRULLINEMIA |
| Identified Mutation |
R344X |
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| Gene |
ASS1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 2 |
603470.0008; CITRULLINEMIA |
| Identified Mutation |
ARG363TRP |
| Remarks |
Subject is clinically affected; AS 10 fold elevation of citrulline in plasma = 1172 uM (normal is 3-36uM); mutations in the ASS1 gene of p.R344X and p.R363W; treatment includes citrulline arginine supplement,sodium phenylbuterate and a protein restricted diet; liver transplant, mental retardation/develpmental delay, past hyperammonemic events; neurological evaluation at age 2 was normal. |
| Split Ratio |
1:4 |
| 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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