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GM05185 Fibroblast

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1

Affected:

Yes

Sex:

Male

Age:

26 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
Class Disorders with Trinucleotide Expansions
Class X Chromosome Markers
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 3
Relation to Proband maternal uncle
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks 46,fra(X),Y present in 30-50% of PBL; affected male by Southern analysis

Characterizations

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PDL at Freeze 4.75
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
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 46,fra(X),Y present in 30-50% of PBL; affected male by Southern analysis

Publications

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Edwards N, Combrinck C, McCaughey-Chapman A, Connor B, Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation Frontiers in cellular neuroscience17:1254412 2023
PubMed ID: 37810261
 
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

External Links

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dbSNP dbSNP ID: 20240
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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Passage Frozen 8
Split Ratio 1:2
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 -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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