NA11273
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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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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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 |
8.56 |
| Passage Frozen |
7 |
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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 |
316C>T |
| Remarks |
Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2). |
| Chen X, Han X, Blanchi B, Guan W, Ge W, Yu YC, Sun YE, Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2 Protein & cell: 2020 |
| PubMed ID: 32851591 |
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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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