Description:
ABETALIPOPROTEINEMIA; ABL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
See GM01453 Lymphoid; steatorrhea as an infant & child; absent apolipoprotein B; no chylomicrons, VLDL, or LDL present in circulation; consanguineous parents; affected bro died at age 9; maintained on vit E & K suppl; no neurologic disease |
| Besirli CG, Gong TW, Lomax MI, The Atp1b3 gene for Na,K-ATPase beta 3 subunit maps to mouse chromosome 9, and a related gene, Atp1b3-rs, maps to mouse chromosome 3. Mamm Genome9:171-2 1998 |
| PubMed ID: 9457684 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|