GM25853

GM25853 LCL from B-Lymphocyte

Description:

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

Overview

back to top

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Italian/Irish

Country of Origin

USA

Family Member

1

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; symptom onset at birth; motor functions achieved: holding head up without assistance, sit when placed; sequencing of the NEB gene revealed two heterozygous splice site mutations: c.1152+1G>A in intron 13 and c.17013+1G>T in intron 107; assistive devices: requires respiratory support for (greater than 12 hours/day); surgeries: tracheotomy; fibroblast is GM25854.

Characterizations

back to top

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

; NEMALINE MYOPATHY 2 (NEM2)

Identified Mutation

c.1152+1G>A

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

; NEMALINE MYOPATHY 2 (NEM2)

Identified Mutation

c.17013+1G>T

Phenotypic Data

back to top

Remarks

Clinically affected; symptom onset at birth; motor functions achieved: holding head up without assistance, sit when placed; sequencing of the NEB gene revealed two heterozygous splice site mutations: c.1152+1G>A in intron 13 and c.17013+1G>T in intron 107; assistive devices: requires respiratory support for (greater than 12 hours/day); surgeries: tracheotomy; fibroblast is GM25854.

External Links

back to top

Gene Cards

Gene Ontology

GO:0003779 actin binding

GO:0007525 somatic muscle development

GO:0008307 structural constituent of muscle

GO:0015629 actin cytoskeleton

GO:0030017 sarcomere

GO:0030832 regulation of actin filament length

NCBI Gene

NCBI GTR

161650 NEBULIN; NEB

256030 NEMALINE MYOPATHY 2; NEM2

OMIM

161650 NEBULIN; NEB

256030 NEMALINE MYOPATHY 2; NEM2

Omim Description

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2

Culture Protocols

back to top

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD