Description:
PHENYLKETONURIA
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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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
|
|
Race
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White
|
|
Family Member
|
1
|
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Relation to Proband
|
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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
PAH |
| Chromosomal Location |
12q24.1 |
| Allelic Variant 1 |
; PHENYLKETONURIA |
| Identified Mutation |
23-BP DEL, NT590 (c.590_612del23) |
| |
| Gene |
PAH |
| Chromosomal Location |
12q24.1 |
| Allelic Variant 2 |
; PHENYLKETONURIA |
| Identified Mutation |
IVS8+1G>A (c.912+1G>A) |
| Remarks |
Clinically affected; hyperphenylalaninemia; donor subject is a compound heterozygote with two pathogenic mutations: one allele has a 23-bp deletion in exon 6 at nucleotide 590 (c.590_612del23; 590_612del23) and a second allele has a splice site mutation in exon 8 at nucleotide 912 (c.912+1G>A; IVS8+1G>A]; similarly affected brother (GM11196, lymph). |
| Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria Stem cell research77:103407 2024 |
| PubMed ID: 38552357 |
| |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19:103407 2018 |
| PubMed ID: 30326846 |
|