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 |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
Black/African American
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| 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 |
Ex3 c.193C>T |
| |
| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 2 |
; |
| Identified Mutation |
Ex4 c.256C>T |
| Remarks |
Deficient lysosomal acid lipase activity; CRM+ with antibodies to acid lipase; 46,XY,5q+ in original culture; 46,XY in Repository stock; slow growing culture; heterozygous for LIPA gene mutations c.193C>T(p.R65X) and c.256C>T(p.H86Y) |
| Burton BK, Reed SP, Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease. Am J Hum Genet33:203-8 1981 |
| PubMed ID: 6782865 |
| |
| Byrd JC 3d, Powers JM, Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems. Acta Neuropathol (Berl)45:37-42 1979 |
| PubMed ID: 216225 |
| Passage Frozen |
15 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|