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 |
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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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Race
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White
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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 |
6.41 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| sterol esterase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.1.13 |
| |
| Remarks |
Failure to thrive; developmental delay; adrenal calcifications; hepatomegaly; deficient WBC & fibroblast lysosomal acid lipase activity |
| Pavani G, Laurent M, Fabiano A, Cantelli E, Sakkal A, Corre G, Lenting PJ, Concordet JP, Toueille M, Miccio A, Amendola M, Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins Nature communications11:3778 2019 |
| PubMed ID: 32728076 |
| |
| Ouchi R, Togo S, Kimura M, Shinozawa T, Koido M, Koike H, Thompson W, Karns RA, Mayhew CN, McGrath PS, McCauley HA, Zhang RR, Lewis K, Hakozaki S, Ferguson A, Saiki N, Yoneyama Y, Takeuchi I, Mabuchi Y, Akazawa C, Yoshikawa HY, Wells JM, Takebe T, Modeling Steatohepatitis in Humans with Pluripotent Stem Cell-Derived Organoids Cell metabolism30:374-384.e6 2018 |
| PubMed ID: 31155493 |
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| 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 |
| |
| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
| |
| Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012 |
| PubMed ID: 23035117 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Heat Inactivated |
| Supplement |
- |
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