GM16387
LCL from B-Lymphocyte
Description:
CYSTINURIA; CSNU
SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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6
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Relation to Proband
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sister
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 sister or two siblings affected with cystinuria (GM16481 and GM16500); hypothyroidism diagnosed at age 25; 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 |
- |
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