Description:
WILSON DISEASE
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Diagnosed at age 24 as asymptomatic with "emotional instability"; low serum ceruloplasmin & high hepatic copper level; maintained on d-penicillamine; father had Wilson's disease; parents are first cousins; see GM05258A Lymphoid |
| Petters J, Cimmaruta C, Iwanov K, Chang ML, Völkner C, Knuebel G, Murua Escobar H, Frech MJ, Hermann A, Rolfs A, Lukas J, Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease Stem cell research43:101708 2019 |
| PubMed ID: 32028086 |
| |
| Krishnan N1, Felice C1, Rivera K1, Pappin DJ1, Tonks NK1., DPM-1001 decreased copper levels and ameliorated deficits in a mouse model of Wilson's disease Genes and Development
32:944-952 2018 |
| PubMed ID: 29945887 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|