NA07982
DNA from Fibroblast
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 |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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AUSTRIAN
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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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Clinical summary/Case history
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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 |
; RETT SYNDROME |
| Identified Mutation |
705delG |
| Remarks |
Clinically affected; microcephaly; scoliosis diagnosed at age 12; severe kyphoscoliosis at age 25; early milestones were slow; started losing skills at age 2; currently severely retarded; behavioral phenotype includes hand wringing that began at age 2 and became more intense; no sleep problems; no self-injurious behavior; abnormal EEG; CT scan at age 25 showed evidence of atrophy; donor subject carries a frameshift mutation, 705delG, in the gene encoding methyl-CpG binding protein 2 (MECP2); see GM07983 lymphoblast. |
| Esposito A, Seri T, Breccia M, Indrigo M, De Rocco G, Nuzzolillo F, Denti V, Pappacena F, Tartaglione G, Serrao S, Paglia G, Murru L, de Pretis S, Cioni JM, Landsberger N, Guarnieri FC, Palmieri M, Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models EMBO molecular medicine16:2795-2826 2023 |
| PubMed ID: 39402139 |
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| Yildirim M, Delepine C, Feldman D, Pham VA, Chou S, Ip J, Nott A, Tsai LH, Ming GL, So PTC, Sur M, Label-free three-photon imaging of intact human cerebral organoids for tracking early events in brain development and deficits in Rett syndrome eLife11:2795-2826 2022 |
| PubMed ID: 35904330 |
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| 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 biology11:2795-2826 2018 |
| PubMed ID: 31308215 |
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| Mor N1, Rais Y2, Sheban D3, Peles S1, Aguilera-Castrejon A1, Zviran A4, Elinger D5, Viukov S1, Geula S1, Krupalnik V1, Zerbib M1, Chomsky E6, Lasman L1, Shani T1, Bayerl J1, Gafni O1, Hanna S7, Buenrostro JD8, Hagai T9, Masika H10, Vainorius G11, Bergman Y10, Greenleaf WJ12, Esteban MA13, Elling U11, Levin Y5, Massarwa R1, Merbl Y14, Novershtern N15, Hanna JH16., Neutralizing Gatad2a-Chd4-Mbd3/NuRD Complex Facilitates Deterministic Induction of Naive Pluripotency Cell Stem Cell11:2795-2826 2018 |
| PubMed ID: 30122475 |
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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 |
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| 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 |
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| 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 |
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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 |
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| 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 |
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