GM22783
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 |
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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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1
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Family History
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N
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0001; RETT SYNDROME |
| Identified Mutation |
ARG133CYS |
| Remarks |
Clinically affected; definite normal period of development; head circumference deceleration noted after age 1 year; limited hand use; constant repetitive hand motions; speaks well, but not at age level; walks independently; no breathing problems or seizures; normal EEG; minor difficulty chewing; slightly below normal height; slight spinal curve; occasional problem with circulation in feet; grinds teeth; occasional difficulty sleeping; no self injurious behavior; no tremors or spasticity; donor subject has a heterozygous C>T transition at nucleotide 397 in exon 3 of the MECP2 gene (397C>T) resulting in the substitution of cysteine for arginine at codon 133 [Arg133Cys (R133C)] |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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