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GM16223 LCL from B-Lymphocyte

Description:

FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN

Affected:

Yes

Sex:

Male

Age:

41 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 19 years of age; ataxia; mitral valve prolapse; areflexia; sensory loss; dysarthria; scoliosis; brother and cousin are also affected; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 400 and 630 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 19 years of age; ataxia; mitral valve prolapse; areflexia; sensory loss; dysarthria; scoliosis; brother and cousin are also affected; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 400 and 630 repeats.

Publications

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Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S, Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons Frontiers in pharmacology15:1323491 2023
PubMed ID: 38420191
 
Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF, Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers Molecular genetics and metabolism94:491-7 2008
PubMed ID: 18485778

External Links

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dbSNP dbSNP ID: 21838
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 1:4
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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