NA06144
DNA from Fibroblast
Description:
WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.72 |
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| sterol esterase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.1.13 |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 1 |
; |
| Identified Mutation |
Ex6 c.594dupT |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 2 |
; |
| Identified Mutation |
Ex7 c.796G>T |
| Remarks |
Hepatosplenomegaly; adrenal calcification; deficient lysosomal acid lipase activity; heterozygous for LIPA gene mutations c.594dupT(p.A199Cfs*13) and c.796G>T(p.G266X); same subject as GM27446 (stem cell); mother is GM06123 (fibroblast); father is GM06122 (fibroblast). |
| Aguisanda F, Yeh CD, Chen CZ, Li R, Beers J, Zou J, Thorne N, Zheng W, Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics Orphanet journal of rare diseases12:120 2016 |
| PubMed ID: 28659158 |
|
|