NA03111
DNA from Fibroblast
Description:
WOLMAN DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid 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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Ethnicity
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IRISH/CANADIAN
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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 |
5.3 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 1 |
; |
| Identified Mutation |
Ex8 c.894G>A(spl) |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 2 |
; |
| Identified Mutation |
Ex10 c.967_968delAG |
| Remarks |
Liver lysosomal acid lipase < 5% of control and electrophoresis showed absence of "A" band; heterozygous for LIPA gene mutations c.894G>A(spl)and c.967_968delAG (p.S323Lfs*44) |
| Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA, A deep learning approach to identify gene targets of a therapeutic for human splicing disorders Nature communications12:3332 2020 |
| PubMed ID: 34099697 |
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