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GM23508
LCL
from
B-Lymphocyte
Description:
ARGININOSUCCINIC ACIDURIA
ARGININOSUCCINATE LYASE; ASL
Affected:
At Risk
Sex:
Male
Age:
9
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Disorders of the Urea Cycle
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Ethnicity
Not Hispanic/Latino
Family History
N
Relation to Proband
proband
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Asymptomatic; diagnosed at newborn screening; elevated argininosuccinic acid in plasma amino acid and urine amino acid; on citrulline arginine supplement; protein restriction; neurological evaluation was normal at age 3 years.
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Phenotypic Data
Remarks
Asymptomatic; diagnosed at newborn screening; elevated argininosuccinic acid in plasma amino acid and urine amino acid; on citrulline arginine supplement; protein restriction; neurological evaluation was normal at age 3 years.
External Links
Gene Cards
ASL
Gene Ontology
GO:0000050 urea cycle
GO:0004056 argininosuccinate lyase activity
GO:0005737 cytoplasm
GO:0006526 arginine biosynthesis
GO:0006527 arginine catabolism
GO:0016829 lyase activity
NCBI Gene
Gene ID:435
NCBI GTR
207900 ARGININOSUCCINIC ACIDURIA
608310 ARGININOSUCCINATE LYASE; ASL
OMIM
207900 ARGININOSUCCINIC ACIDURIA
608310 ARGININOSUCCINATE LYASE; ASL
Omim Description
ARGININOSUCCINASE DEFICIENCY
ARGININOSUCCINATE LYASE DEFICIENCY
ARGININOSUCCINIC ACID LYASE DEFICIENCY
ARGININOSUCCINICACIDURIA
ASAL DEFICIENCY
ASL DEFICIENCY
Culture Protocols
Split Ratio
1:3
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
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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