Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Cell Type
|
Fibroblast
|
Tissue Type
|
Tonsil
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.84 |
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
MECP2 |
Chromosomal Location |
Xq28 |
Allelic Variant 1 |
300005.0007; RETT SYNDROME |
Identified Mutation |
THR158MET; In a sporadic patient with Rett syndrome (312750), Amir et al. [Nature Genet. 23: 185-188 (1999)] identified a C-to-T transition at nucleotide 547 of the MECP2 gene, resulting in a THR158-to-MET (T158M) substitution. |
Remarks |
Growth and developmental delay; can walk only with assistance; nonverbal; no hand use; constant repetitive hand motions; no seizures, but significantly abnormal EEG; teeth grinding; some sleep difficulties; eating problems with minor reflux; breath holding and hyperventilation; small feet; some tremor; this culture had a lifespan of 56 population doublings (PDLs); the donor subjects carries a C>T transition at nucleotide 473 (ACG>ATG) in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of threonine 158 by methionine [Thr158Met (T158M)] in the methyl-binding domain; see GM16271 (lymphocyte) |
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 |
|
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 |
|
Williams EC, Zhong X, Mohamed A, Li R, Liu Y, Dong Q, Ananiev GE, Mok JC, Lin BR, Lu J, Chiao C, Cherney R, Li H, Zhang SC, Chang Q, Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons Human molecular genetics23:2968-80 2014 |
PubMed ID: 24419315 |
|
Ananiev G, Williams EC, Li H, Chang Q, Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model PloS one6:e25255 2011 |
PubMed ID: 21966470 |
|
Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J, Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Human molecular genetics20:2103-15 2011 |
PubMed ID: 21372149 |
|
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 |
Cumulative PDL at Freeze |
11.9 |
Passage Frozen |
4 |
Split Ratio |
1:6 |
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 |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
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