NA01676
DNA from Fibroblast
Description:
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
OCRL GENE; 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 |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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 |
5.79 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
OCRL |
| Chromosomal Location |
Xq26.1 |
| Allelic Variant 1 |
R827X; LOWE OCULOCEREBRORENAL SYNDROME |
| Identified Mutation |
ARG827TER |
| Remarks |
Positive family history; clinically affected; donor subject is hemizygous for a C>T transition at nucleotide 2479 in the OCRL gene (2479C>T)resulting in a premature stop at codon 827 [Arg827Ter (R827X)] |
| 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 |
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| Harper GS, Hascall VC, Yanagishita M, Gahl WA, Proteoglycan synthesis in normal and Lowe syndrome fibroblasts. J Biol Chem262:5637-43 1987 |
| PubMed ID: 3571227 |
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| Donnelly PV, Reed P, DiFerrante N, Synthesis and sulfation of glycosaminoglycans in fibroblasts from a patient with Lowe's syndrome. Connect Tissue Res13:89-98 1984 |
| PubMed ID: 6242399 |
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