Description:
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
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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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Family Member
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1
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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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
At risk (50%); 46,XY; a brother was affected; pedigree shows multiple affected individuals |
| Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC, Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins Human molecular genetics: 2020 |
| PubMed ID: 32391547 |
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| Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y, OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome Human molecular genetics21:3333-44 2012 |
| PubMed ID: 22543976 |
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| Coon, B.G., Mukherjee, D., Hanna, C.B., Riese II, D.J., Lowe, M., and Aguilar, R.C., Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase Hum Molec Genet18(23):4478-4491 2009 |
| PubMed ID: 19700499 |
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| Allen PG, Actin filament uncapping localizes to ruffling lamellae and rocketing vesicles Nature cell biology5:972-9 2003 |
| PubMed ID: 14557819 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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