GM23879
LCL from B-Lymphocyte
Description:
CITRULLINEMIA, CLASSIC
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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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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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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 |
; |
| Identified Mutation |
p.T3891/p.G390R |
| Remarks |
Asymptomatic; diagnosed during newborn screening; 10 fold elevation above mean of citrulline in plasma; pathogenic mutation: p.T3891/p.G390R; biochemical evidence: NBS Citrulline level of 279 umol/L (cut off <100); treatment includes protein restriction. |
| Gene Cards |
ASS1 |
| NCBI GTR |
215700 CITRULLINEMIA, CLASSIC |
| OMIM |
215700 CITRULLINEMIA, CLASSIC |
| Omim Description |
ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCYARGININOSUCCINATE SYNTHETASE, INCLUDED; ASS, INCLUDED |
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ARGININOSUCCINATE SYNTHETASE PSEUDOGENE 2, INCLUDED; ASSP2, INCLUDED |
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ASSP4, INCLUDED |
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ASSP5, INCLUDED |
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ASSP6, INCLUDED |
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CITRULLINEMIA |
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CITRULLINURIA |
| 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 |
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