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GM04026 Fibroblast

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1

Affected:

Yes

Sex:

Male

Age:

35 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
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Macro-orchidism; mental retardation; 46,fra(X)(q27),Y in PBL, 2% in fibroblasts; positive family history; affected male by Southern analysis

Characterizations

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PDL at Freeze 6.38
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
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 Macro-orchidism; mental retardation; 46,fra(X)(q27),Y in PBL, 2% in fibroblasts; positive family history; 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
 
Susco SG, Ghosh S, Mazzucato P, Angelini G, Beccard A, Barrera V, Berryer MH, Messana A, Lam D, Hazelbaker DZ, Barrett LE, Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models Cell reports40:111312 2021
PubMed ID: 36070702
 
Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H, Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual Experimental cell research398:112419 2020
PubMed ID: 33296661
 
Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E, An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Molecular and cellular biology27:426-37 2006
PubMed ID: 17101793
 
Hansen RS, Canfield TK, Fjeld AD, Mumm S, Laird CD, Gartler SM, A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication. Proc Natl Acad Sci U S A94:4587-92 1997
PubMed ID: 9114034
 
Howard-Peebles PN, Pryor JC, Fragile sites in human chromosomes I. The effect of methionine on the Xq fragile site. Clin Genet19:228-32 1981
PubMed ID: 6944163
 
Howard-Peebles PN, Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation. Am J Med Genet7:497-501 1980
PubMed ID: 6938133
 
Howard-Peebles PN, Stoddard GR, Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidism. Clin Genet17:125-8 1980
PubMed ID: 6928810

External Links

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dbSNP dbSNP ID: 17226
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 6
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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How to Order
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