GM25492

GM25492 LCL from B-Lymphocyte

Description:

DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Cell Type

B-Lymphocyte

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Country of Origin

USA

Family History

N

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at birth; diagnosed at age 7 months by a specialist (ENT/audiology); severe profound bilateral sensorineural hearing loss; normal temporal bone MRI; sequencing revealed the subject is a double heterozygote with two mutations in GJB2 gene: c.358_360delGAG resulting in p.Glu120del and c.585G>A resulting in p.Met195Ile; subject negative for mutations in GJB6 and PAX3 genes; normal SNP array: arr(1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aids.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

GJB2

Chromosomal Location

13q11-q12

Allelic Variant 1

;

Identified Mutation

GLU120DEL

Gene

GJB2

Chromosomal Location

13q11-q12

Allelic Variant 1

;

Identified Mutation

MET195ILE

Phenotypic Data

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Remarks

Clinically affected; symptom onset at birth; diagnosed at age 7 months by a specialist (ENT/audiology); severe profound bilateral sensorineural hearing loss; normal temporal bone MRI; sequencing revealed the subject is a double heterozygote with two mutations in GJB2 gene: c.358_360delGAG resulting in p.Glu120del and c.585G>A resulting in p.Met195Ile; subject negative for mutations in GJB6 and PAX3 genes; normal SNP array: arr(1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aids.

External Links

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Gene Cards

Gene Ontology

GO:0005886 plasma membrane

GO:0005922 connexon complex

GO:0006810 transport

GO:0007267 cell-cell signaling

GO:0007605 perception of sound

GO:0015285 connexon channel activity

GO:0016021 integral to membrane

NCBI Gene

NCBI GTR

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

OMIM

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

Omim Description

DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1

NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 1; NSRD1

Culture Protocols

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Split Ratio

1:3

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

Supplement

-

Pricing

International/Commercial/For-profit:

$373.00USD

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

$216.00USD