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GM06895 LCL from B-Lymphocyte

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
APPARENTLY HEALTHY INDIVIDUAL
FMR1 GENE; FMR1

Affected:

No

Sex:

Male

Age:

55 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
Class Disorders with Trinucleotide Expansions
Class X Chromosome Markers
Alternate IDs GM17269 [FRAGILE X MENTAL RETARDATION SYNDROME]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 3
Relation to Proband father
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically normal; 1 affected son and 2 grandsons; 46,XY in peripheral blood lymphocytes; normal male by Southern and PCR analyses; CGG repeat is 23

Characterizations

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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
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
Gene FMR1
Chromosomal Location Xq27.3
Allelic Variant 1 309550.0004; FRAGILE X MENTAL RETARDATION SYNDROME
Identified Mutation (CGG)n EXPANSION; The usual cause of the fragile X syndrome is an expanded (CGG)n repeat in the 5-prime noncoding region of the FMR1 gene.

Phenotypic Data

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Remarks Clinically normal; 1 affected son and 2 grandsons; 46,XY in peripheral blood lymphocytes; normal male by Southern and PCR analyses; CGG repeat is 23

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024
 
Dolskiy AA, Yarushkin AA, Grishchenko IV, Lemskaya NA, Pindyurin AV, Boldyreva LV, Pustylnyak VO, Yudkin DV, miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis Non-coding RNA research6:1-7 2020
PubMed ID: 33426406
 
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019
PubMed ID: 31230722
 
Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017
PubMed ID: 30503517
 
Grasso M, Boon EM, Filipovic-Sadic S, van Bunderen PA, Gennaro E, Cao R, Latham GJ, Hadd AG, Coviello DA., A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis. J Mol Diagn.13:pii: S1525-1578 2013
PubMed ID: 24177047
 
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K, Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia Nucleic acids research35:3383-90 2007
PubMed ID: 17478498
 
Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990
PubMed ID: 2227950
 
Howard-Peebles PN, Friedman JM, Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet37:956-64 1985
PubMed ID: 3863482

External Links

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dbSNP dbSNP ID: 10910
Gene Cards FMR1
Gene Ontology GO:0003729 mRNA binding
GO:0005625 soluble fraction
GO:0005654 nucleoplasm
GO:0005840 ribosome
GO:0005844 polysome
GO:0006397 mRNA processing
GO:0006406 mRNA-nucleus export
GO:0006810 transport
NCBI Gene Gene ID:2332
NCBI GTR 300624 FRAGILE X SYNDROME; FXS
309550 FMRP TRANSLATIONAL REGULATOR 1; FMR1
OMIM 300624 FRAGILE X SYNDROME; FXS
309550 FMRP TRANSLATIONAL REGULATOR 1; FMR1
Omim Description FRAGILE X MENTAL RETARDATION SYNDROME

Culture Protocols

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Split Ratio 1:3
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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