NA11272
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 |
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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Ethnicity
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JEWISH
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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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Molecular characterization after cell line submission to CCR
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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 |
6.66 |
| Passage Frozen |
5 |
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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 |
; RETT SYNDROME |
| Identified Mutation |
1155del32 |
| Remarks |
Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor subject carries a frameshift mutation, 1155del32, in the gene encoding methyl-CpG binding protein 2 (MECP2). Same subject as GM27437 (stem cell). |
| Yu D, Sakurai F, Corey DR, Clonal Rett Syndrome cell lines to test compounds for activation of wild-type MeCP2 expression Bioorganic & medicinal chemistry letters21:5202-5 2011 |
| PubMed ID: 21840716 |
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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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| 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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