NA05003
DNA from Fibroblast
Description:
HARTNUP DISORDER
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
SLC6A19 |
| Chromosomal Location |
5p15 |
| Allelic Variant 1 |
608893.0003; HARTNUP DISORDER |
| Identified Mutation |
ASP173ASN |
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| Gene |
SLC6A19 |
| Chromosomal Location |
5p15 |
| Allelic Variant 2 |
608893.0003; HARTNUP DISORDER |
| Identified Mutation |
ASP173ASN |
| Remarks |
Mental retardation and typical aminoaciduria; defective intestinal transport of tryptophan and phenylalanine; similarly affected brother; donor subject is homozygous for a G>A transition at nucleotide 517 in exon 4 of the SLC6A19 gene (517G>A)resulting in the substitution of asparagine for aspartic acid at codon 173 [Asp173Asn (D173N)] |
| Azmanov DN, Rodgers H, Auray-Blais C, Giguère R, Bailey C, Bröer S, Rasko JE, Cavanaugh JA, Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin Annals of human genetics71:755-61 2007 |
| PubMed ID: 17555458 |
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| Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A, Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet36(9):999-1002 2004 |
| PubMed ID: 15286787 |
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| Shih VE, Bixby EM, Alpers DH, Bartoscas CS, Thier SO, Studies of intestinal transport defect in Hartnup disease. Gastroenterology61:445-53 1971 |
| PubMed ID: 5157127 |
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