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GM23676 LCL from B-Lymphocyte

Description:

LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
METHYL-CPG-BINDING PROTEIN 2; MECP2
DUPLICATED CHROMOSOME

Affected:

Unknown

Sex:

Female

Age:

44 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
GeT-RM Samples
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XX.arr Xq28(152771567-153227663)x3
Species Homo sapiens
Common Name Human
Remarks Clinically affected; donor subject is heterozygous for a 490 kb Xq28 duplication which includes the MECP2 gene.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene MECP2
Chromosomal Location Xq28
Allelic Variant 1 300005.0030; LUBS X-LINKED MENTAL RETARDATION SYNDROME
Identified Mutation MECP2 DUP

Phenotypic Data

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Remarks Clinically affected; donor subject is heterozygous for a 490 kb Xq28 duplication which includes the MECP2 gene.

Publications

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Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH., Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing. J Mol Diagn.16 (2):273-9 2014
PubMed ID: 24508304
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875

External Links

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Gene Cards MECP2
Gene Ontology GO:0000122 negative regulation of transcription from Pol II promoter
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
NCBI Gene Gene ID:4204
Gene ID:57790
NCBI GTR 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
OMIM 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

Culture Protocols

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Split Ratio 1:5
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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