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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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JEWISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after 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 |
6.66 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; RETT SYNDROME |
| Identified Mutation |
1155del32 |
| Remarks |
Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor subject carries a frameshift mutation, 1155del32, in the gene encoding methyl-CpG binding protein 2 (MECP2). Same subject as GM27437 (stem cell). |
| Sarne V, Huber A, Beribisky AV, Hengstschläger M, Laccone F, Steinkellner H, Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations Scientific reports15:35696 2025 |
| PubMed ID: 41083694 |
| |
| Yu D, Sakurai F, Corey DR, Clonal Rett Syndrome cell lines to test compounds for activation of wild-type MeCP2 expression Bioorganic & medicinal chemistry letters21:5202-5 2011 |
| PubMed ID: 21840716 |
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| 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 |
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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 |
| |
| 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 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
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