NA21921
DNA from Fibroblast
Description:
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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More than one race
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before 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 |
3.06 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
p.I126fsC11; ENCEPHALOPATHY, NEONATAL SEVERE |
| Identified Mutation |
378_384delTCCCCAG |
| Remarks |
Clinically affected; congenital encephalopathy; hypotonia; hypoventlation; seizures with abnormal EEG; apnea; gastroesophageal reflux with failure to thrive; tube fed; respiratory failure at 5 months of age; high narrow palate; myopathic hypotonic facies; died at 15.5 months from central respiratory failure due to pneumonia; skin biopsy used to make this culture was taken 2 days prior to death; donor subject was hemizygous for a microdeletion in exon 4 of the MECP2 gene (r.378_384delTCCCCAG) resulting in a frameshift that leads to a premature stop codon (p.I126fsX11) |
| Schüle B, Armstrong DD, Vogel H, Oviedo A, and Francke U.
, Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
Clin Genet74(2):116-126 2008 |
| PubMed ID: 18477000 |
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