NA11270
DNA from Fibroblast
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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Country of Origin
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USA
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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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| PDL at Freeze |
5.84 |
| Passage Frozen |
10 |
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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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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0016; RETT SYNDROME |
| Identified Mutation |
ARG306CYS; In 2 unrelated patients with Rett syndrome (312750), Bourdon et al. [Hum. Genet. 108: 43-50 (2001)] found a 916C-T transition in exon 3 of the MECP2 gene resulting in an arg306-to-cys (R306C) amino acid change. |
| Remarks |
Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor carries a missense mutation, 916C>T [Arg306Cys (R306C)], in the gene encoding methyl-CpG binding protein 2 (MECP2). |
| Belair C, Sim S, Kim KY, Tanaka Y, Park IH, and IH, Wolin SL, The RNA exosome nuclease complex regulates human embryonic stem cell differentiation The Journal of cell biology: 2018 |
| PubMed ID: 31308215 |
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| Williams EC, Zhong X, Mohamed A, Li R, Liu Y, Dong Q, Ananiev GE, Mok JC, Lin BR, Lu J, Chiao C, Cherney R, Li H, Zhang SC, Chang Q, Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons Human molecular genetics23:2968-80 2014 |
| PubMed ID: 24419315 |
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| Ananiev G, Williams EC, Li H, Chang Q, Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model PloS one6:e25255 2011 |
| PubMed ID: 21966470 |
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| Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J, Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Human molecular genetics20:2103-15 2011 |
| PubMed ID: 21372149 |
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| Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, Chen G, Gage FH, Muotri AR, A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells Cell143:527-39 2010 |
| PubMed ID: 21074045 |
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| Carvalho CM, Camargos W, Pena SD, Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation Clinical chemistry52:539-40 2006 |
| PubMed ID: 16510438 |
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| Traynor J, Agarwal P, Lazzeroni L, Francke U, Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet3(1):12 2002 |
| PubMed ID: 12418965 |
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| Sung Jae Lee S, Wan M, Francke U, Spectrum of MECP2 mutations in Rett syndrome. Brain Dev23 Suppl 1:S138-43 2001 |
| PubMed ID: 11738860 |
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