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NA16753 DNA from LCL

Description:

CYSTINURIA; CSNU
SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9

Affected:

Yes

Sex:

Female

Age:

41 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Amino Acid Metabolism
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; recurrent nephrolithiasis beginning in childhood; urine cystine levels markedly elevated (4593 micromol/24 hours); patient underwent uninephrectomy at age 15 because of severe nephrolithiasis; no family history; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1352 which converts the thr-389 codon in exon 11 of the SLC7A9 gene to a methionine [THR389MET (T389M)]; the other allele contains a splice site mutation (789+2 T-C).

Characterizations

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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 SLC7A9
Chromosomal Location 19q13.1
Allelic Variant 1 T389M; NON-TYPE 1 CYSTINURIA
Identified Mutation THR389MET
 
Gene SLC7A9
Chromosomal Location 19q13.1
Allelic Variant 2 splicing site mutation; NON-TYPE 1 CYSTINURIA
Identified Mutation 789+2T>C

Phenotypic Data

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Remarks Clinically affected; recurrent nephrolithiasis beginning in childhood; urine cystine levels markedly elevated (4593 micromol/24 hours); patient underwent uninephrectomy at age 15 because of severe nephrolithiasis; no family history; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide 1352 which converts the thr-389 codon in exon 11 of the SLC7A9 gene to a methionine [THR389MET (T389M)]; the other allele contains a splice site mutation (789+2 T-C).

Publications

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Font MA, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernandez E, Zorzano A, Bertran J, Palacin M; International Cystinuria Consortium, Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet10(4):305-16 2001
PubMed ID: 11157794

External Links

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dbSNP dbSNP ID: 20080
Gene Cards SLC7A9
Gene Ontology GO:0005279 amino acid-polyamine transporter activity
GO:0005887 integral to plasma membrane
GO:0006461 protein complex assembly
GO:0006520 amino acid metabolism
GO:0006810 transport
GO:0006865 amino acid transport
GO:0015184 L-cystine transporter activity
NCBI Gene Gene ID:11136
NCBI GTR 220100 CYSTINURIA
604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9
OMIM 220100 CYSTINURIA
604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9
Omim Description CYSTINURIA, TYPE I; CSNU1
  CYSTINURIA; CSNU
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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Same Subject
  • GM16753 - B-Lymphocyte
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