GM23823
LCL from B-Lymphocyte
Description:
ARGININOSUCCINIC ACIDURIA
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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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Asian, Other
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Ethnicity
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Not Hispanic/Latino
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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 |
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| Gene |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 1 |
608310.0002; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
GLN286ARG; In cell line 1254, representing a patient with neonatal onset, consanguineous parents, and less than 3% of residual ASAL activity, Walker et al. (1990) found a single nucleotide change, an A857-to-G transition in exon 11. This substitution converted glutamine-286 to arginine and created restriction sites for 3 restriction endonucleases. This mutation occurred in a region of 18 amino acids identical in yeast and human ASAL and in a region of 10 amino acids highly conserved in the family of class II fumarases.
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| Remarks |
Subject is clinically affected; pathogenic mutation identified: Exon 11 c. 857A>G (p.Q286R); presence of argininiosuccinic acid in blood or urine; residual enzyme activity: 17.5 and 23.7 patom/6H/mg protein; decreased AL enzyme activity in cultured skin fibroblasts; ASA in blood; treatments include citrulline arginine supplements, citrulline arginine scavenger, sodium phenylbuterate, benzoate and a protein restricted diet; past hyperammonemic events, mental retardation/developmental delay; jaw reflex brisk; neurological evaluation at age 5 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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