GM16483
LCL from B-Lymphocyte
Description:
CYSTINURIA; CSNU
SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
4
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
SLC3A1 |
| Chromosomal Location |
2p16.3 |
| Allelic Variant 1 |
104614.0001; CYSTINURIA |
| Identified Mutation |
MET467THR; Calonge et al. [Nature Genet. 6: 420-425 (1994)] detected a
met467-to-thr mutation in the SLC3A1 gene in 3 cystinuric sibs. The
mutation nearly abolished the amino acid transport activity induced by the
SLC3A1 gene in Xenopus oocytes. Bisceglia et al. [Hum. Genet. 98: 447-451
(1996)] noted that this was the most common allele detected in the Spanish
and Italian population analyzed by them. |
| Remarks |
Clinically unaffected father of an affected son (GM14861) and an affected daughter (GM16500); one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 [MET467THR (M467T)] in the SLC3A1 gene. |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|
|