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GM29449 iPSC from Blood

Description:

ARGININOSUCCINIC ACIDURIA
ARGININOSUCCINATE LYASE; ASL

Affected:

Yes

Sex:

Female

Age:

36 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Disorders of the Urea Cycle
Protocols Protocol PDF
Biopsy Source Blood
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Blood
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Relation to Proband proband
ISCN 46,XX[20]
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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Characterizations

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Passage Frozen 13
 
Induced Pluripotent Stem Cell The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 

Phenotypic Data

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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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

External Links

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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

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Passage Frozen 13
Split Ratio 1:10
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum 0% none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
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How to Order
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