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GM25500
LCL
from
B-Lymphocyte
Description:
ARGININOSUCCINIC ACIDURIA
ARGININOSUCCINATE LYASE; ASL
Affected:
Yes
Sex:
Female
Age:
36
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
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
Country of Origin
USA
Family History
N
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; symptom onset at 4 days of age; learning disabilities; mental retardation developmental delay; past hyperammonemic events; AS deficiency; decreased argininosuccinase (AS) enzyme activity in cultured fibroblasts or other tissue; neurological evaluation at age 8 years revealed reflex abnormalities; treatments and management: protein restriction, citrulline arginine supplement, citrulline arginine scavenger.
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Remarks
Clinically affected; symptom onset at 4 days of age; learning disabilities; mental retardation developmental delay; past hyperammonemic events; AS deficiency; decreased argininosuccinase (AS) enzyme activity in cultured fibroblasts or other tissue; neurological evaluation at age 8 years revealed reflex abnormalities; treatments and management: protein restriction, citrulline arginine supplement, citrulline arginine scavenger.
No data is available
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
No data is available
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
-
Pricing
Commercial/For-profit:
$259.00
USD
Academic/Non-profit/Government:
$143.00
USD
Add to Cart
How to Order
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