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GM22382
LCL
from
B-Lymphocyte
Description:
BARTH SYNDROME; BTHS
TAFAZZIN; TAZ
Affected:
Yes
Sex:
Male
Age:
8
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
Black/African American
Ethnicity
AFRICAN-AMERICAN
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; restrictive cardiomyopathy; at 3 years of age had first episode of wheezing; multiple episodes of asthma and recurrent pneumonia from age 3 to 6; cardiomegaly on chest radiograph at age 6 1/2; echocardiogram demonstrated findings typical of a restrictive cardiomyopathy as well as mild left-ventricular noncompaction and pulmonary hypertension; no significant ventricular dilation; cardiac catheterization confirmed restrictive cardiomyopathy with severe pulmonary hypertension and significantly elevated pulmonary vascular resistance; no neutropenia or neurologic abnormalities; inadequate weight gain without nasogastric feedings; mild exercise intolerance; no arrhythmias; currently awaiting heart transplant; donor subject is hemizygous for a T>C change at nucleotide 383 in exon 5 of the TAZ (G4.5) gene [c.383T>C] resulting in the substitution of serine for phenylalanine at codon 128 [Phe128Ser (F128S)]
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Gene
TAZ
Chromosomal Location
Xq28
Allelic Variant 1
F128S; BARTH SYNDROME
Identified Mutation
PHE128SER
Remarks
Clinically affected; restrictive cardiomyopathy; at 3 years of age had first episode of wheezing; multiple episodes of asthma and recurrent pneumonia from age 3 to 6; cardiomegaly on chest radiograph at age 6 1/2; echocardiogram demonstrated findings typical of a restrictive cardiomyopathy as well as mild left-ventricular noncompaction and pulmonary hypertension; no significant ventricular dilation; cardiac catheterization confirmed restrictive cardiomyopathy with severe pulmonary hypertension and significantly elevated pulmonary vascular resistance; no neutropenia or neurologic abnormalities; inadequate weight gain without nasogastric feedings; mild exercise intolerance; no arrhythmias; currently awaiting heart transplant; donor subject is hemizygous for a T>C change at nucleotide 383 in exon 5 of the TAZ (G4.5) gene [c.383T>C] resulting in the substitution of serine for phenylalanine at codon 128 [Phe128Ser (F128S)]
No data is available
Gene Cards
TAZ
Gene Ontology
GO:0006936 muscle contraction
GO:0007507 heart development
GO:0007517 muscle development
GO:0008152 metabolism
GO:0008415 acyltransferase activity
GO:0016021 integral to membrane
NCBI Gene
Gene ID:6901
NCBI GTR
300394 TAFAZZIN; TAZ
302060 BARTH SYNDROME; BTHS
OMIM
300394 TAFAZZIN; TAZ
302060 BARTH SYNDROME; BTHS
Omim Description
3-@METHYLGLUTACONICACIDURIA, TYPE II
BARTH SYNDROME; BTHS
CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA
ENDOCARDIAL FIBROELASTOSIS 2; EFE2
ISOLATED NONCOMPACTION OF THE LEFT VENTRICLE MYOCARDIUM, INCLUDED;INVM, INCLUDED
MGA, TYPE IITAFAZZIN, INCLUDED; TAZ, INCLUDED
No data is available
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
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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