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 |
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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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|
Race
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White
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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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|
| PDL at Freeze |
5.23 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
PAH |
| Chromosomal Location |
12q24.1 |
| Allelic Variant 1 |
261600.0031; PHENYLKETONURIA |
| Identified Mutation |
PHE39LEU; See Forrest et al. (1991).
|
| |
| Gene |
PAH |
| Chromosomal Location |
12q24.1 |
| Allelic Variant 2 |
; PHENYLKETONURIA |
| Identified Mutation |
IVS10-11G>A |
| Remarks |
Clinically affected; normal level of dihydropteridine reductase in skin fibroblasts; donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 117 in exon 2 of the PAH gene [117C>G] resulting in a substitution of leucine for phenylalanine at codon 39 [Phe39Leu (F39L)] and a second allele has a splice site mutation at nucleotide 1066 [IVS10-11G>A]. |
| Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria Stem cell research77:103405 2024 |
| PubMed ID: 38555716 |
| |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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