NA20399

NA20399 DNA from LCL

Description:

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A
POLYMERASE, DNA, GAMMA; POLG

Affected:

No Data

Sex:

Female

Age:

33 YR (At Sampling)

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

Black/African American

Ethnicity

AFRICAN-AMERICAN

Family Member

1

Relation to Proband

parent

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; donor subject is heterozygous for a C>T transition at nucleotide 3241 in exon 20 of the POLG gene (c.3241C>T) resulting in a stop at codon 1081 [Arg1081Ter (R1081X)]; son died at one year of age with clinical picture of Alpers syndrome with mitochondrial depletion and COX deficiency; spouse is GM20400; proband not in Repository.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

POLG

Chromosomal Location

15q25

Allelic Variant 1

R1081X; ALPERS SYNDROME

Identified Mutation

ARG1081TER

Phenotypic Data

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Remarks

Clinically unaffected; donor subject is heterozygous for a C>T transition at nucleotide 3241 in exon 20 of the POLG gene (c.3241C>T) resulting in a stop at codon 1081 [Arg1081Ter (R1081X)]; son died at one year of age with clinical picture of Alpers syndrome with mitochondrial depletion and COX deficiency; spouse is GM20400; proband not in Repository.

External Links

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Gene Cards

Gene Ontology

GO:0000287 magnesium ion binding

GO:0003677 DNA binding

GO:0003891 delta DNA polymerase activity

GO:0003895 gamma DNA-directed DNA polymerase activity

GO:0005739 mitochondrion

GO:0005760 gamma DNA polymerase complex

GO:0006261 DNA-dependent DNA replication

GO:0016740 transferase activity

NCBI Gene

NCBI GTR

174763 POLYMERASE, DNA, GAMMA; POLG

203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A

OMIM

174763 POLYMERASE, DNA, GAMMA; POLG

203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A

Omim Description

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY

Pricing

International/Commercial/For-profit:

$281.00USD

U.S. Academic/Non-profit/Government:

$139.00USD