GM11298
LCL from B-Lymphocyte
Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Family Member
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3
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Relation to Proband
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mother
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically unaffected; mother of two affected daughters (GM11299 and GM11300); obligate carrier female; has a random X-inactivation pattern in her peripheral blood leukocytes. |
| Amir,R., Van den Veyver, I. B., Wan, M., Tran, C., Francke, U. and Zoghbi, H. Y., Rett syndrome is caused by nutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet23:185-188 1999 |
| PubMed ID: 10508514 |
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| Ellison, K. A., C. P. Fill, J. Terwilliger, L. J. Degennaro, A. Martin-Gallardo, M. Anvret, A. K. Percy, J. Ott, and H. Y. Zohgbi, Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis Am J Hum Genet50:278-287 1992 |
| PubMed ID: 1734712 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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