GM17567
Fibroblast from Skin, Unspecified
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 |
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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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Fibroblast from Skin, Unspecified
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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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ISCN
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46,XX[23]
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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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| Passage Frozen |
3 |
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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 |
X487W; RETT SYNDROME |
| Identified Mutation |
TER487TRP |
| Remarks |
Clinically affected; onset between 15-20 months of age; seizures began at age 3; never walked independently; began to develop repetitive hand movements at 28 months; no hand use; small feet; language regression at 18 months; some sleep problems; nonverbal; significantly abnormal EEG; swallowing difficulties, reflux, and breathing problems; teeth grinding; decelerating head circumference; growth retardation; seizures; donor subject has a missense mutation (A>G) at nucleotide 1461 (1461A>G) in the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a tryptophan for a stop codon at codon 487 [TER487TRP (X487W)]. |
| 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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| Ohashi M1, Korsakova E2, Allen D3, Lee P3, Fu K3, Vargas BS3, Cinkornpumin J3, Salas C3, Park JC3, Germanguz I3, Langerman J4, Chronis C4, Kuoy E4, Tran S5, Xiao X5, Pellegrini M3, Plath K6, Lowry WE, Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence Stem Cell Reports10:1453-1463 2018 |
| PubMed ID: 29742391 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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