GM24354
LCL from B-Lymphocyte
Description:
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1
DISORDERS OF THE UREA CYCLE
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
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Biopsy Source
|
Peripheral vein
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|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
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Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
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Race
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White
|
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Ethnicity
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Not Hispanic/Latino
|
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Country of Origin
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USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
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Species
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Homo sapiens
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Common Name
|
Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
CPS1 |
| Chromosomal Location |
2q35 |
| Allelic Variant 1 |
; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY |
| Identified Mutation |
p.R1262X |
| |
| Gene |
CPS1 |
| Chromosomal Location |
2q35 |
| Allelic Variant 2 |
; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY |
| Identified Mutation |
p.G07V |
| Remarks |
Clinically affected; past hyperammonemic events; pathogenic mutations in the CPS1 gene: p.R1262X and p.G07V; treatments include: citrulline arginine supplement, benzoate, sodium phenylbuterate, and protein restriction. |
| Split Ratio |
1:2 |
| 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 |
- |
|
|