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GM16214 LCL from B-Lymphocyte

Description:

FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN

Affected:

Yes

Sex:

Male

Age:

15 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 of the Nervous System
Class Disorders with Trinucleotide Expansions
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 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset at 9 years of age; ataxia; cardiomyopathy; areflexia; weakness; scoliosis; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 600 and 700 repeats.

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 FXN
Chromosomal Location 9q13-q21.1
Allelic Variant 1 606829.0001; FRIEDREICH ATAXIA
Identified Mutation (GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units.
 
Gene FXN
Chromosomal Location 9q13-q21.1
Allelic Variant 2 606829.0001; FRIEDREICH ATAXIA
Identified Mutation (GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units.

Phenotypic Data

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Remarks Clinically affected; onset at 9 years of age; ataxia; cardiomyopathy; areflexia; weakness; scoliosis; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 600 and 700 repeats.

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
 
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
 
Ast T, Meisel JD, Patra S, Wang H, Grange RMH, Kim SH, Calvo SE, Orefice LL, Nagashima F, Ichinose F, Zapol WM, Ruvkun G, Barondeau DP, Mootha VK, Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis Cell177:1507-1521.e16 2018
PubMed ID: 31031004
 
Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G, Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia PloS one14:e0217776 2018
PubMed ID: 31158268
 
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 genetics14:e0217776 2017
PubMed ID: 30503517
 
Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, Perlman SL, Pook MA, Cortopassi GA, Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Hum Mol Genet.23(25):6848-62 2014
PubMed ID: 25113747
 
Li K, Singh A, Crooks DR, Dai X, Cong Z, Pan L, Ha D, Rouault TA, Expression of human frataxin is regulated by transcription factors SRF and TFAP2 PloS one5:e12286 2010
PubMed ID: 20808827
 
Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA, Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia Human molecular genetics17:2265-73 2008
PubMed ID: 18424449

External Links

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dbSNP dbSNP ID: 12333
Gene Cards FRDA
FXN
Gene Ontology GO:0004428 inositol or phosphatidylinositol kinase activity
GO:0005381 iron ion transporter activity
GO:0005739 mitochondrion
GO:0006118 electron transport
GO:0006879 iron ion homeostasis
GO:0007268 synaptic transmission
GO:0009055 electron carrier activity
GO:0016192 vesicle-mediated transport
NCBI Gene Gene ID:2395
NCBI GTR 229300 FRIEDREICH ATAXIA; FRDA
606829 FRATAXIN; FXN
OMIM 229300 FRIEDREICH ATAXIA; FRDA
606829 FRATAXIN; FXN
Omim Description FAFRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
  FRATAXIN, INCLUDED
  FRDA1
  FRIEDREICH ATAXIA 1; FRDA
  X25, INCLUDED

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
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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